T46P (p.Thr46Pro) variant of SLC12A3 (P55017)
T46P (p.Thr46Pro) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T46P (p.Thr46Pro) variant details
- p.Thr46Pro
- gnomAD 16-56865371-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- MetaLR 0.78
- MetaSVM 0.36
- CADD 22.60
- PolyPhen-2 0.46
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available