V272F (p.Val272Phe) variant of SLC12A1 (Q13621)
V272F (p.Val272Phe) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
V272F (p.Val272Phe) variant details
- p.Val272Phe
- rs137853158
- ClinGen CA119889
- ClinVar RCV000009296
- UniProt VAR 010223
- Pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Bartter disease type 1)
- EBI: Pathogenic (in BARTS1)
- UniProt: Pathogenic (in BARTS1)
- Structural context available
- Cited in: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter… (PMID 8640224)