CASP12 p.Phe307=
c.921T>C · rs181763844 · VCV3038352
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.692%, afr)
Conditions
1
CASP12-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.37 | GERP -3.4, phastCons 0.001 |
| Overall | ||
| CADD | 0.772 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.692%
African / African-American · 480/69,400 alleles
Filtering AF
0.641%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.62%
Overall
0.0347%
508/1,465,020 alleles · rare
exomes 239/1,312,896 · genomes 269/152,124 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.692% | 145 |
| Remaining individualsnot grpmax-eligible | 0.0314% | 3,183 |
| Admixed American | 0.0209% | 4,791 |
| South Asian | 0.00131% | 76,164 |
| European (non-Finnish) | 9.03e-05% | 1,106,852 |
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.Phe307=
- Coding
- c.921T>C
- dbSNP
- rs181763844
- Type
- single nucleotide variant
- Location
- chr11:104887202 (GRCh38)
- Structure
- AlphaFold pLDDT 77.13
- Residue 307
- a UniProt-annotated variant site (in)
Disease context
CASP12-related disorder
Similar variants
- CASP12 p.His273Arg Benign ★ same condition
- CASP12 c.*6A>G Benign same condition
- CASP12 p.Asn33Ile Benign same condition
- CASP12 p.Asp193Asn Benign same condition
- CASP12 p.Gly283Ser Likely benign same condition
- CASP12 p.Ile215Val Benign same condition
- CASP12 p.Lys213= Likely benign same condition
- CASP12 p.Arg125Ter Likely benign ★★ 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-phe307 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown