P13S (p.Pro13Ser) variant of SLC12A2 (P55011)
P13S (p.Pro13Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- gnomAD 5-128083991-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.21
- CADD 8.62
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available