S112A (p.Ser112Ala) variant of CASP3 (Caspase-3)
S112A (p.Ser112Ala) in CASP3 (Caspase-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S112A (p.Ser112Ala) variant details
- p.Ser112Ala
- gnomAD 4-184631913-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 34.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available