T14A (p.Thr14Ala) variant of SLC34A3 (Q8N130)
T14A (p.Thr14Ala) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- TOPMed rs992543951
- gnomAD rs992543951
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- MetaLR 0.05
- MetaSVM -1.01
- CADD 0.92
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available