CA4 p.Ter313Arg
c.937T>C · rs2544528483 · VCV3028479
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | stop-loss | predicted loss-of-function |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP -0.75, phastCons 1 |
| Overall | ||
| CADD | 9.278 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- CA4
- Protein
- p.Ter313Arg
- Coding
- c.937T>C
- MANE Select
- NM_000717
- dbSNP
- rs2544528483
- Type
- single nucleotide variant
- Location
- chr17:60159422 (GRCh38)
- Gene constraint
- LOEUF 0.975 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.86 · 10 PDB
Similar variants
- CA4 p.Asp268Asn Uncertain significance ★★ ⚠ same condition
- CA4 p.Ala164= Benign/Likely benign ★★ same condition
- CA4 p.Asn177Lys Benign/Likely benign ★★ same condition
- CA4 p.Asp161= Likely benign ★★ same condition
- CA4 p.Lys145= Benign/Likely benign ★★ same condition
- CA4 p.Pro287= Benign/Likely benign ★★ same condition
- CA4 p.Ser119= Benign/Likely benign ★★ same condition
- CA4 p.Cys229Ter Likely pathogenic ★ same condition
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/ca4-p-ter313arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown