R20H (p.Arg20His) variant of SLC12A1 (Q13621)
R20H (p.Arg20His) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs34661166
- ClinGen CA7546682
- cosmic curated COSV57712
- ClinVar RCV001118372
- Conflicting interpretations
- not provided; Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.60
- MetaLR 0.78
- MetaSVM 0.83
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bartter disease type 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.0096)
- Structural context available