P12A (p.Pro12Ala) variant of RHO (Rhodopsin)
P12A (p.Pro12Ala) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P12A (p.Pro12Ala) variant details
- p.Pro12Ala
- gnomAD 3-129528767-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.95
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available