A106T (p.Ala106Thr) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A106T (p.Ala106Thr) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A106T (p.Ala106Thr) variant details
- p.Ala106Thr
- rs1423288785
- ClinGen CA359031491
- ClinVar RCV002949245
- TOPMed rs1423288785
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.17
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.6e-05)
- Structural context available