A28V (p.Ala28Val) variant of CASP9 (Caspase-9)
A28V (p.Ala28Val) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs1052571
- ClinGen CA614750
- cosmic curated COSV61600
- ClinVar RCV001679534
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.01
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs1052571)
- UniProt: Benign (in dbSNP:rs1052571)
- Most common in the HGDP:MBUTI population (allele frequency 1)
- Structural context available
- Cited in: Cloning of a novel human caspase-9 splice variant containing only the CARD domain. (PMID 16780893)
- Cited in: ICE-LAP6, a novel member of the ICE/Ced-3 gene family, is activated by the cytotoxic T cell protease granzyme B. (PMID 8663294)