S99L (p.Ser99Leu) variant of CASP9 (Caspase-9)
S99L (p.Ser99Leu) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S99L (p.Ser99Leu) variant details
- p.Ser99Leu
- rs4646008
- cosmic curated COSV61602
- UniProt VAR 015416
- ExAC rs4646008
- Missense
- Variant Prioritization Score for Impact Estimate 0.0743
- REVEL 0.07
- CADD 1.32
- PolyPhen-2 0.34
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available