D38A (p.Asp38Ala) variant of SLC12A1 (Q13621)
D38A (p.Asp38Ala) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D38A (p.Asp38Ala) variant details
- p.Asp38Ala
- 1000Genomes rs150581202
- ExAC rs150581202
- gnomAD rs150581202
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.15
- MetaLR 0.04
- MetaSVM -1.06
- CADD 5.61
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available