E142D (p.Glu142Asp) variant of CHM (P24386)
E142D (p.Glu142Asp) in CHM (P24386) 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 0.09 / 1. The record also includes population frequency data and structural context.
E142D (p.Glu142Asp) variant details
- p.Glu142Asp
- NCI-TCGA Cosmic COSV6330
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0914
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.00
- CADD 4.33
- PolyPhen-2 0.02
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available