Is CFAP210 p.Val32Phe (c.94G>T) pathogenic?

CFAP210 p.Val32Phe (c.94G>T) is classified Uncertain significance in CFAP210 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-02). Very rare (popmax 0.00892%, eas).

How common is CFAP210 p.Val32Phe (c.94G>T) in the general population?

CFAP210 p.Val32Phe (c.94G>T) is very rare (popmax 0.00892%, eas) (gnomAD).

CFAP210 p.Val32Phe

c.94G>T · rs750109196 · VCV3143387

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00892%, eas)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
REVEL	0.116	moderately benign-leaning
Splicing
SpliceAI	Δ0.31	acceptor loss · deltas
Pangolin	Δ0.35	loss · gain 0.33 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP -0.93	GERP -3.5
Regional constraint	o/e 0.95	unconstrained · MANE · 48 kb · p 0.24 · regional, not allelic
Overall
CADD	6.731	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00892% East Asian · 4/44,862 alleles

Filtering AF 0.00298% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0018%

Overall 0.00031% 5/1,612,596 alleles · very rare exomes 5/1,460,334 · genomes 0/152,262 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00892%	11,216
Remaining individualsnot grpmax-eligible	0.0016%	62,434

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: CFAP210
Protein: p.Val32Phe
Coding: c.94G>T
MANE Select: NM_001085447
dbSNP: rs750109196
Type: single nucleotide variant
Location: chr2:169681207 (GRCh38)
Structure: AlphaFold pLDDT 81.20 · 2 PDB

Full CFAP210 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CFAP210 p.Ala196Thr Uncertain significance ★ same type
CFAP210 p.Ala349Gly Uncertain significance ★ same type
CFAP210 p.Ala372Gly Uncertain significance ★ same type
CFAP210 p.Ala382Val Uncertain significance ★ same type
CFAP210 p.Ala405Val Uncertain significance ★ same type
CFAP210 p.Ala446Glu Uncertain significance ★ same type
CFAP210 p.Ala462Thr Uncertain significance ★ same type
CFAP210 p.Arg111His 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/cfap210-p-val32phe (accessed [today's date]).

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