N29K (p.Asn29Lys) variant of SLC12A1 (Q13621)
N29K (p.Asn29Lys) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N29K (p.Asn29Lys) variant details
- p.Asn29Lys
- gnomAD 15-48207806-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- MetaLR 0.05
- MetaSVM -1.02
- CADD 3.51
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available