G257S (p.Gly257Ser) variant of SLC12A1 (Q13621)
G257S (p.Gly257Ser) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bartter disease type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G257S (p.Gly257Ser) variant details
- p.Gly257Ser
- rs896545456
- ClinGen CA269460340
- NCI-TCGA Cosmic COSV5770
- cosmic curated COSV57708
- Pathogenic/Likely pathogenic
- Bartter disease type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.98
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bartter disease type 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available