C35R (p.Cys35Arg) variant of CNGA1 (P29973)
C35R (p.Cys35Arg) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
C35R (p.Cys35Arg) variant details
- p.Cys35Arg
- Ensembl rs1578078378
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available