A16S (p.Ala16Ser) variant of SLC12A2 (P55011)
A16S (p.Ala16Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 5-128084000-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.16
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available