A562V (p.Ala562Val) variant of SLC12A1 (Q13621)
A562V (p.Ala562Val) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A562V (p.Ala562Val) variant details
- p.Ala562Val
- rs769782252
- NCI-TCGA Cosmic COSV6679
- cosmic curated COSV66792
- ExAC rs769782252
- Likely pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.89
- MetaLR 0.98
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter disease type 1)
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available