L117F (p.Leu117Phe) variant of SLC26A4 (Pendrin)
L117F (p.Leu117Phe) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L117F (p.Leu117Phe) variant details
- p.Leu117Phe
- rs145254330
- ClinGen CA132727
- cosmic curated COSV55915
- ClinVar RCV000036491
- Pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.30
- ClinVar: Pathogenic (Pendred syndrome)
- EBI: Pathogenic (in DFNB4 and PDS)
- UniProt: Pathogenic (in DFNB4 and PDS)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)
- Cited in: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux… (PMID 11932316)