G43C (p.Gly43Cys) variant of SLC22A1 (O15245)
G43C (p.Gly43Cys) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G43C (p.Gly43Cys) variant details
- p.Gly43Cys
- gnomAD 6-160122062-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available