V138D (p.Val138Asp) variant of SLC26A4 (Pendrin)
V138D (p.Val138Asp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hearing loss, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V138D (p.Val138Asp) variant details
- p.Val138Asp
- rs1790890770
- ClinGen CA368847343
- ClinVar RCV001291244
- TOPMed rs1790890770
- Likely pathogenic
- Hearing loss, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Hearing loss, autosomal recessive)
- EBI: Likely pathogenic (in PDS)
- UniProt: Likely pathogenic (in PDS)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)