T14I (p.Thr14Ile) variant of SLC12A3 (P55017)
T14I (p.Thr14Ile) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- TOPMed rs1240433099
- gnomAD rs1240433099
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available