A29G (p.Ala29Gly) variant of SLC12A2 (P55011)
A29G (p.Ala29Gly) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- gnomAD 5-128084040-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.12
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available