T48N (p.Thr48Asn) variant of SLC12A1 (Q13621)
T48N (p.Thr48Asn) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T48N (p.Thr48Asn) variant details
- p.Thr48Asn
- ExAC rs777199828
- gnomAD rs777199828
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- MetaLR 0.47
- MetaSVM -0.16
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available