E28K (p.Glu28Lys) variant of SLC12A1 (Q13621)
E28K (p.Glu28Lys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- gnomAD 15-48207801-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.59
- MetaLR 0.17
- MetaSVM -0.70
- CADD 26.20
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available