F141S (p.Phe141Ser) variant of SLC26A4 (Pendrin)
F141S (p.Phe141Ser) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
F141S (p.Phe141Ser) variant details
- p.Phe141Ser
- rs2535296240
- ClinGen CA368847802
- ClinVar RCV003037252
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available