N5K (p.Asn5Lys) variant of SLC12A1 (Q13621)
N5K (p.Asn5Lys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N5K (p.Asn5Lys) variant details
- p.Asn5Lys
- gnomAD 15-48207734-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- MetaLR 0.44
- MetaSVM -0.29
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available