T9K (p.Thr9Lys) variant of SLC12A3 (P55017)
T9K (p.Thr9Lys) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, 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 0.08 / 1. The record also includes population frequency data and structural context.
T9K (p.Thr9Lys) variant details
- p.Thr9Lys
- ExAC rs111313053
- TOPMed rs111313053
- gnomAD rs111313053
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0759
- CADD 0.08
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available