A30P (p.Ala30Pro) variant of SLC12A2 (P55011)
A30P (p.Ala30Pro) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- gnomAD 5-128084042-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.31
- CADD 21.10
- PolyPhen-2 0.72
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available