T50I (p.Thr50Ile) variant of SLC12A3 (P55017)
T50I (p.Thr50Ile) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- ExAC rs775145278
- gnomAD rs775145278
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available