N19D (p.Asn19Asp) variant of SLC12A1 (Q13621)
N19D (p.Asn19Asp) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N19D (p.Asn19Asp) variant details
- p.Asn19Asp
- TOPMed rs2040999078
- gnomAD rs2040999078
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.23
- MetaLR 0.42
- MetaSVM -0.57
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available