N19S (p.Asn19Ser) variant of SLC12A1 (Q13621)
N19S (p.Asn19Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N19S (p.Asn19Ser) variant details
- p.Asn19Ser
- gnomAD rs1433968969
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.70
- CADD 6.27
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available