T21I (p.Thr21Ile) variant of SLC12A3 (P55017)
T21I (p.Thr21Ile) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- TOPMed rs1283136692
- gnomAD rs1283136692
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available