S92G (p.Ser92Gly) variant of CNGA1 (P29973)
S92G (p.Ser92Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
S92G (p.Ser92Gly) variant details
- p.Ser92Gly
- rs768687517
- ExAC rs768687517
- gnomAD rs768687517
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.06
- CADD 24.60
- PolyPhen-2 0.22
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available