K56E (p.Lys56Glu) variant of SLC12A1 (Q13621)
K56E (p.Lys56Glu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- gnomAD 15-48207885-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.24
- MetaLR 0.43
- MetaSVM -0.57
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available