V11L (p.Val11Leu) variant of RHO (Rhodopsin)
V11L (p.Val11Leu) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- gnomAD 3-129528764-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.43
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available