T66I (p.Thr66Ile) variant of SLC12A3 (P55017)
T66I (p.Thr66Ile) 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.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- gnomAD rs1471113776
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 16.70
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available