E19Q (p.Glu19Gln) variant of CASP9 (Caspase-9)
E19Q (p.Glu19Gln) 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 0.22 / 1. The record also includes population frequency data and structural context.
E19Q (p.Glu19Gln) variant details
- p.Glu19Gln
- NCI-TCGA Cosmic COSV6160
- cosmic curated COSV61600
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.10
- CADD 24.20
- PolyPhen-2 0.84
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available