S38C (p.Ser38Cys) variant of RHO (Rhodopsin)
S38C (p.Ser38Cys) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- gnomAD 3-129528846-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.34
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available