A498V (p.Ala498Val) variant of SLC12A1 (Q13621)
A498V (p.Ala498Val) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bartter syndrome; Bartter disease type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
A498V (p.Ala498Val) variant details
- p.Ala498Val
- rs1366101480
- ClinGen CA392311814
- NCI-TCGA Cosmic COSV6679
- cosmic curated COSV66796
- Likely pathogenic
- Bartter syndrome; Bartter disease type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter syndrome; Bartter disease type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available