P43A (p.Pro43Ala) variant of SLC12A1 (Q13621)
P43A (p.Pro43Ala) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P43A (p.Pro43Ala) variant details
- p.Pro43Ala
- gnomAD rs979590503
- Uncertain significance
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.40
- MetaLR 0.52
- MetaSVM -0.09
- CADD 17.60
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Uncertain significance (Bartter disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available