N8K (p.Asn8Lys) variant of SLC12A1 (Q13621)
N8K (p.Asn8Lys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- gnomAD 15-48207743-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.22
- MetaLR 0.43
- MetaSVM -0.74
- CADD 8.68
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available