N5S (p.Asn5Ser) variant of SLC12A1 (Q13621)
N5S (p.Asn5Ser) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- rs376723001
- ClinGen CA7546677
- cosmic curated COSV10037
- ClinVar RCV002589667
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- MetaLR 0.44
- MetaSVM -0.38
- CADD 16.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available