N72K (p.Asn72Lys) variant of SLC12A3 (P55017)
N72K (p.Asn72Lys) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N72K (p.Asn72Lys) variant details
- p.Asn72Lys
- gnomAD 16-56865451-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- MetaLR 0.82
- MetaSVM 0.51
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available