T42A (p.Thr42Ala) variant of SLC34A3 (Q8N130)
T42A (p.Thr42Ala) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- TOPMed rs1836255218
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- MetaLR 0.04
- MetaSVM -0.99
- CADD 3.25
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available