T6I (p.Thr6Ile) variant of SLC12A3 (P55017)
T6I (p.Thr6Ile) in SLC12A3 (P55017) is a missense change. 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.
T6I (p.Thr6Ile) variant details
- p.Thr6Ile
- ExAC rs758669928
- TOPMed rs758669928
- gnomAD rs758669928
- Missense
- Variant Prioritization Score for Impact Estimate 0.0639
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available