L31V (p.Leu31Val) variant of RHO (Rhodopsin)
L31V (p.Leu31Val) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- ExAC rs773077062
- gnomAD rs773077062
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.82
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available