G40W (p.Gly40Trp) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G40W (p.Gly40Trp) in SLC9A3 (Sodium/hydrogen exchanger 3) 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 0.15 / 1. The record also includes population frequency data and structural context.
G40W (p.Gly40Trp) variant details
- p.Gly40Trp
- TOPMed rs866241750
- gnomAD rs866241750
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- CADD 15.50
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available