E63D (p.Glu63Asp) variant of CASP9 (Caspase-9)
E63D (p.Glu63Asp) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E63D (p.Glu63Asp) variant details
- p.Glu63Asp
- ExAC rs759719474
- gnomAD rs759719474
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.11
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available