P5S (p.Pro5Ser) variant of SLC12A2 (P55011)
P5S (p.Pro5Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- gnomAD 5-128083967-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.23
- CADD 13.90
- PolyPhen-2 0.02
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available