P64T (p.Pro64Thr) variant of SLC12A1 (Q13621)
P64T (p.Pro64Thr) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P64T (p.Pro64Thr) variant details
- p.Pro64Thr
- ExAC rs754666663
- TOPMed rs754666663
- gnomAD rs754666663
- Uncertain significance
- Inborn genetic diseases; Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.38
- MetaLR 0.48
- MetaSVM -0.14
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Bartter disease type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available