V138F (p.Val138Phe) variant of SLC26A4 (Pendrin)
V138F (p.Val138Phe) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V138F (p.Val138Phe) variant details
- p.Val138Phe
- rs111033199
- ClinGen CA253312
- ClinVar RCV000005106
- ClinVar RCV000036493
- Pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.78
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic (Pendred syndrome)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)
- Cited in: Clinical and molecular analysis of three Mexican families with Pendred's syndrome. (PMID 11375792)