A42V (p.Ala42Val) variant of RHO (Rhodopsin)
A42V (p.Ala42Val) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD 3-129528858-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.24
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available