F34C (p.Phe34Cys) variant of SLC22A5 (O76082)
F34C (p.Phe34Cys) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F34C (p.Phe34Cys) variant details
- p.Phe34Cys
- gnomAD 5-132370073-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available