CASP12 p.His172Arg
c.515A>G · rs764136136 · VCV3137574
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0163%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.403 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.1 | GERP 0.69, phastCons 1 |
| Overall | ||
| CADD | 21.9 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0163%
European (non-Finnish) · 187/1,146,320 alleles
Filtering AF
0.0143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0137%
Overall
0.013%
200/1,535,842 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0163% | 6,130 |
| Remaining individualsnot grpmax-eligible | 0.00834% | 11,992 |
| Admixed American | 0.00786% | 12,731 |
| African / African-American | 0.00548% | 18,233 |
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
- CASP12
- Protein
- p.His172Arg
- Coding
- c.515A>G
- dbSNP
- rs764136136
- Type
- single nucleotide variant
- Location
- chr11:104891322 (GRCh38)
- Structure
- AlphaFold pLDDT 77.13
- Residue 172
- a UniProt-annotated variant site (in); an active site
Similar variants
- CASP12 p.Arg125Ter Likely benign ★★ same type
- CASP12 c.1013T>G Uncertain significance ★ same type
- CASP12 c.107T>C Uncertain significance ★ same type
- CASP12 c.19T>A Uncertain significance ★ same type
- CASP12 c.22A>G Uncertain significance ★ same type
- CASP12 c.254G>A Uncertain significance ★ same type
- CASP12 c.269G>C Uncertain significance ★ same type
- CASP12 c.274G>A 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/casp12-p-his172arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown