V11A (p.Val11Ala) variant of RHO (Rhodopsin)
V11A (p.Val11Ala) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- gnomAD 3-129528765-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.69
- CADD 25.40
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available