A12D (p.Ala12Asp) variant of SLC12A2 (P55011)
A12D (p.Ala12Asp) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- TOPMed rs895786562
- gnomAD rs895786562
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.37
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available