T9M (p.Thr9Met) variant of SLC12A3 (P55017)
T9M (p.Thr9Met) in SLC12A3 (P55017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- cosmic curated COSV52633
- ExAC rs111313053
- TOPMed rs111313053
- gnomAD rs111313053
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0588
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available