V138L (p.Val138Leu) variant of SLC26A4 (Pendrin)
V138L (p.Val138Leu) 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; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V138L (p.Val138Leu) variant details
- p.Val138Leu
- rs111033199
- ClinGen CA368847338
- ClinVar RCV000672001
- ClinVar RCV001855572
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 25.20
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)