G389W (p.Gly389Trp) variant of SLC26A4 (Pendrin)
G389W (p.Gly389Trp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data and structural context.
G389W (p.Gly389Trp) variant details
- p.Gly389Trp
- TOPMed rs1194210245
- gnomAD rs1194210245
- Uncertain significance
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Pendred syndrome)
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available