S38P (p.Ser38Pro) variant of RHO (Rhodopsin)
S38P (p.Ser38Pro) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- gnomAD 3-129528845-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.19
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available