R21L (p.Arg21Leu) variant of RHO (Rhodopsin)
R21L (p.Arg21Leu) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R21L (p.Arg21Leu) variant details
- p.Arg21Leu
- gnomAD 3-129528795-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.88
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available