T46A (p.Thr46Ala) variant of SLC12A3 (P55017)
T46A (p.Thr46Ala) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- rs746494505
- ClinGen CA8068918
- ClinVar RCV003072387
- ExAC rs746494505
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available