A24D (p.Ala24Asp) variant of SLC12A2 (P55011)
A24D (p.Ala24Asp) 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.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD 5-128084025-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.08
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available