A24G (p.Ala24Gly) variant of SLC12A2 (P55011)
A24G (p.Ala24Gly) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- gnomAD 5-128084025-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.11
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available