Is STRC p.Ala245Val (c.734C>T) pathogenic?

STRC p.Ala245Val (c.734C>T) is classified Uncertain significance in STRC (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-22). AlphaMissense: likely benign (0.0948); No allele count reported in gnomAD v4.1 (AN 876,790).

How common is STRC p.Ala245Val (c.734C>T) in the general population?

STRC p.Ala245Val (c.734C>T) is no allele count reported in gnomAD v4.1 (AN 876,790) (gnomAD).

What do computational predictors say about STRC p.Ala245Val (c.734C>T)?

AlphaMissense predicts likely benign (score 0.0948) — an in-silico prediction, not a clinical call.

STRC p.Ala245Val

c.734C>T · VCV3764236

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0948 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 876,790)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0948	likely benign
REVEL	0.123	moderately benign-leaning
SaProt	LLR -7.08	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.52	GERP -2.5, phastCons 0.99
Regional constraint	o/e 0.00	constrained · MANE · 7,566 bp · p 1.3e-74 · regional, not allelic
Overall
CADD	20.5	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 876,790). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: STRC
Protein: p.Ala245Val
Coding: c.734C>T
MANE Select: NM_153700
Type: single nucleotide variant
Location: chr15:43617687 (GRCh38)
Gene constraint: LOEUF 0.713 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 69.21

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

Similar variants

STRC p.Ala245Pro Uncertain significance ★ ⚠ same residue
STRC c.4219-1G>A Pathogenic/Likely pathogenic ★★ same type
STRC c.4701+1G>A Pathogenic/Likely pathogenic ★★ same type
STRC p.Arg1073Ter Pathogenic ★★ same type
STRC p.Arg1154Ter Pathogenic/Likely pathogenic ★★ same type
STRC p.Arg1224Ter Pathogenic ★★ same type
STRC p.Arg1338Ter Pathogenic/Likely pathogenic ★★ same type
STRC p.Arg1451Ter Pathogenic/Likely pathogenic ★★ 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/strc-p-ala245val (accessed [today's date]).

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