E114D (p.Glu114Asp) variant of CASP9 (Caspase-9)
E114D (p.Glu114Asp) in CASP9 (Caspase-9) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E114D (p.Glu114Asp) variant details
- p.Glu114Asp
- rs2020897
- ExAC rs2020897
- TOPMed rs2020897
- gnomAD rs2020897
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 5.64
- PolyPhen-2 0.00
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs2020897)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available