N39H (p.Asn39His) variant of SLC12A1 (Q13621)
N39H (p.Asn39His) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N39H (p.Asn39His) variant details
- p.Asn39His
- TOPMed rs1488930297
- gnomAD rs1488930297
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.18
- MetaLR 0.43
- MetaSVM -0.47
- CADD 2.71
- PolyPhen-2 0.18
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available