S61N (p.Ser61Asn) variant of SLC12A1 (Q13621)
S61N (p.Ser61Asn) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S61N (p.Ser61Asn) variant details
- p.Ser61Asn
- TOPMed rs1463785529
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.40
- MetaLR 0.53
- MetaSVM -0.01
- CADD 20.80
- PolyPhen-2 0.07
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available