T30N (p.Thr30Asn) variant of SLC34A3 (Q8N130)
T30N (p.Thr30Asn) in SLC34A3 (Q8N130) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
T30N (p.Thr30Asn) variant details
- p.Thr30Asn
- TOPMed rs1229665252
- gnomAD rs1229665252
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- MetaLR 0.04
- MetaSVM -1.05
- CADD 2.27
- PolyPhen-2 0.20
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)