P34S (p.Pro34Ser) variant of RHO (Rhodopsin)
P34S (p.Pro34Ser) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD 3-129528833-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.85
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available