L85V (p.Leu85Val) variant of CNGA1 (P29973)
L85V (p.Leu85Val) in CNGA1 (P29973) is a missense change. 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.
L85V (p.Leu85Val) variant details
- p.Leu85Val
- 1000Genomes rs530208903
- ExAC rs530208903
- gnomAD rs530208903
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.05
- CADD 22.20
- PolyPhen-2 0.71
- SIFT 0.29
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available