T158I (p.Thr158Ile) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
T158I (p.Thr158Ile) 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 0.30 / 1. The record also includes population frequency data and structural context.
T158I (p.Thr158Ile) variant details
- p.Thr158Ile
- rs1739756990
- ClinGen CA359031165
- ClinVar RCV002686106
- TOPMed rs1739756990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.11
- CADD 15.40
- PolyPhen-2 0.08
- SIFT 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available