N59K (p.Asn59Lys) variant of SLC12A3 (P55017)
N59K (p.Asn59Lys) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- gnomAD 16-56865412-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- MetaLR 0.90
- MetaSVM 0.92
- CADD 23.00
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available