A24S (p.Ala24Ser) variant of SLC12A2 (P55011)
A24S (p.Ala24Ser) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 5-128084024-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.10
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available