A84V (p.Ala84Val) variant of CNGA1 (P29973)
A84V (p.Ala84Val) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- ExAC rs760462644
- gnomAD rs760462644
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.18
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.51
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available