E62D (p.Glu62Asp) variant of CYP11B1 (P15538)
E62D (p.Glu62Asp) in CYP11B1 (P15538) 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 0.12 / 1. The record also includes population frequency data and structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- NCI-TCGA Cosmic COSV5282
- cosmic curated COSV52828
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- CADD 7.25
- PolyPhen-2 0.13
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available