S112N (p.Ser112Asn) variant of CASP3 (Caspase-3)
S112N (p.Ser112Asn) in CASP3 (Caspase-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S112N (p.Ser112Asn) variant details
- p.Ser112Asn
- rs758078619
- ExAC rs758078619
- gnomAD rs758078619
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.18
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available