I48V (p.Ile48Val) variant of CASP3 (Caspase-3)
I48V (p.Ile48Val) in CASP3 (Caspase-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- rs139792606
- ClinGen CA3154086
- ClinVar RCV004088063
- ESP rs139792606
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.09
- REVEL 0.07
- CADD 6.67
- PolyPhen-2 0.04
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available