F667S (p.Phe667Ser) variant of SLC26A4 (Pendrin)
F667S (p.Phe667Ser) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F667S (p.Phe667Ser) variant details
- p.Phe667Ser
- rs121908360
- ClinGen CA368843803
- ClinVar RCV001375684
- ClinVar RCV001751743
- Conflicting interpretations
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.86
- MetaSVM 0.94
- CADD 29.80
- ClinVar: Conflicting classifications of pathogenicity (not provided; Pendred syndrome)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)