A30D (p.Ala30Asp) variant of SLC12A2 (P55011)
A30D (p.Ala30Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 5-128084043-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.37
- CADD 22.90
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available