Is CABP7 p.Ala205Val (c.614C>T) pathogenic?

CABP7 p.Ala205Val (c.614C>T) is classified Uncertain significance in CABP7 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-03-07). AlphaMissense: likely pathogenic (0.9751); Very rare (popmax 0.00133%, afr).

How common is CABP7 p.Ala205Val (c.614C>T) in the general population?

CABP7 p.Ala205Val (c.614C>T) is very rare (popmax 0.00133%, afr) (gnomAD).

What do computational predictors say about CABP7 p.Ala205Val (c.614C>T)?

AlphaMissense predicts likely pathogenic (score 0.9751) — an in-silico prediction, not a clinical call.

CABP7 p.Ala205Val

c.614C>T · VCV3826540

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.9751 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00133%, afr)

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense	0.9751	likely pathogenic
REVEL	0.402	indeterminate
SaProt	LLR -5.25	tolerated
⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.5	GERP 2, phastCons 1
Regional constraint	o/e 0.84	unconstrained · MANE · 9,141 bp · p 0.0056 · regional, not allelic
Overall
CADD	32.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/74,948 alleles

Filtering AF 0.000292% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000211%

Overall 0.000558% 9/1,612,004 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00133%	74,948
European (non-Finnish)	0.000678%	147,495

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CABP7
Protein: p.Ala205Val
Coding: c.614C>T
MANE Select: NM_182527
Type: single nucleotide variant
Location: chr22:29729535 (GRCh38)
Gene constraint: LOEUF 0.817 · pLI 0.10 (gnomAD)
Structure: AlphaFold pLDDT 58.35 · 1 PDB

Full CABP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CABP7 p.Ala192Thr Uncertain significance ★ ⚠ same type
CABP7 p.Arg135Trp Uncertain significance ★ ⚠ same type
CABP7 p.Arg181His Uncertain significance ★ ⚠ same type
CABP7 p.Arg80Trp Uncertain significance ★ ⚠ same type
CABP7 p.Asn177Lys Uncertain significance ★ ⚠ same type
CABP7 p.Asn50Asp Uncertain significance ★ ⚠ same type
CABP7 p.Asp124Asn Uncertain significance ★ ⚠ same type
CABP7 p.Asp84Gly Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cabp7-p-ala205val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown