T42R (p.Thr42Arg) variant of SLC34A3 (Q8N130)
T42R (p.Thr42Arg) in SLC34A3 (Q8N130) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
T42R (p.Thr42Arg) variant details
- p.Thr42Arg
- rs1262519524
- cosmic curated COSV10969
- TOPMed rs1262519524
- gnomAD rs1262519524
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- MetaLR 0.04
- MetaSVM -1.02
- CADD 1.83
- PolyPhen-2 0.05
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available