E52D (p.Glu52Asp) variant of CNGA1 (P29973)
E52D (p.Glu52Asp) in CNGA1 (P29973) 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 0.13 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- NCI-TCGA Cosmic COSV6205
- cosmic curated COSV62054
- ESP rs375481961
- ExAC rs375481961
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 5.99
- PolyPhen-2 0.00
- SIFT 0.54
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available