N8S (p.Asn8Ser) variant of SLC12A1 (Q13621)
N8S (p.Asn8Ser) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- gnomAD rs1238693222
- Uncertain significance
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.72
- CADD 3.47
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Bartter disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available