D41A (p.Asp41Ala) variant of SLC12A1 (Q13621)
D41A (p.Asp41Ala) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D41A (p.Asp41Ala) variant details
- p.Asp41Ala
- gnomAD 15-48207841-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.43
- MetaLR 0.11
- MetaSVM -0.92
- CADD 20.40
- PolyPhen-2 0.11
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available