D114V (p.Asp114Val) variant of CNGA1 (P29973)
D114V (p.Asp114Val) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D114V (p.Asp114Val) variant details
- p.Asp114Val
- ExAC rs758688361
- gnomAD rs758688361
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- CADD 16.20
- PolyPhen-2 0.14
- SIFT 0.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available