V402M (p.Val402Met) variant of SLC26A4 (Pendrin)
V402M (p.Val402Met) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V402M (p.Val402Met) variant details
- p.Val402Met
- rs397516414
- ClinGen CA261400
- ClinVar RCV000036427
- ClinVar RCV001171536
- Pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.50
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Pathogenic (Pendred syndrome)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct… (PMID 19204907)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)