F335L (p.Phe335Leu) variant of SLC26A4 (Pendrin)
F335L (p.Phe335Leu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
F335L (p.Phe335Leu) variant details
- p.Phe335Leu
- rs111033212
- ClinGen CA253316
- ClinVar RCV000005114
- ClinVar RCV000036420
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)