E54K (p.Glu54Lys) variant of CNGA1 (P29973)
E54K (p.Glu54Lys) 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 0.35 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- NCI-TCGA Cosmic COSV6205
- cosmic curated COSV62052
- cosmic curated COSV62054
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.09
- CADD 17.60
- PolyPhen-2 0.07
- SIFT 0.91
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available