S14F (p.Ser14Phe) variant of RHO (Rhodopsin)
S14F (p.Ser14Phe) in RHO (Rhodopsin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- gnomAD 3-129528774-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.79
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available