S23P (p.Ser23Pro) variant of SLC12A2 (P55011)
S23P (p.Ser23Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- gnomAD 5-128084021-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.22
- CADD 7.42
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available