T46I (p.Thr46Ile) variant of SLC12A3 (P55017)
T46I (p.Thr46Ile) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T46I (p.Thr46Ile) variant details
- p.Thr46Ile
- Ensembl rs1964327276
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 19.70
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available