S33C (p.Ser33Cys) variant of SLC12A1 (Q13621)
S33C (p.Ser33Cys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S33C (p.Ser33Cys) variant details
- p.Ser33Cys
- gnomAD 15-48207816-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.14
- MetaLR 0.40
- MetaSVM -0.67
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available