N27K (p.Asn27Lys) variant of SLC12A1 (Q13621)
N27K (p.Asn27Lys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N27K (p.Asn27Lys) variant details
- p.Asn27Lys
- ExAC rs746746098
- gnomAD rs746746098
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.22
- MetaLR 0.43
- MetaSVM -0.47
- CADD 4.19
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available