A7P (p.Ala7Pro) variant of SLC12A2 (P55011)
A7P (p.Ala7Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- gnomAD 5-128083973-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.33
- CADD 19.70
- PolyPhen-2 0.20
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available