L40V (p.Leu40Val) variant of RHO (Rhodopsin)
L40V (p.Leu40Val) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD 3-129528851-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available