S110R (p.Ser110Arg) variant of CNGA1 (P29973)
S110R (p.Ser110Arg) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S110R (p.Ser110Arg) variant details
- p.Ser110Arg
- Ensembl rs1739206851
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.04
- CADD 18.70
- PolyPhen-2 0.28
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available