A16G (p.Ala16Gly) variant of SLC12A2 (P55011)
A16G (p.Ala16Gly) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 5-128084001-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.21
- CADD 9.26
- PolyPhen-2 0.02
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available