T46I (p.Thr46Ile) variant of SLC34A3 (Q8N130)
T46I (p.Thr46Ile) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T46I (p.Thr46Ile) variant details
- p.Thr46Ile
- 1000Genomes rs752413019
- ExAC rs752413019
- gnomAD rs752413019
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- MetaLR 0.04
- MetaSVM -1.05
- CADD 16.50
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available