R7S (p.Arg7Ser) variant of SLC26A4 (Pendrin)
R7S (p.Arg7Ser) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- TOPMed rs929239906
- gnomAD rs929239906
- Uncertain significance
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.47
- MetaSVM -0.57
- CADD 21.10
- ClinVar: Uncertain significance (Pendred syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available