G139V (p.Gly139Val) variant of SLC26A4 (Pendrin)
G139V (p.Gly139Val) 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 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G139V (p.Gly139Val) variant details
- p.Gly139Val
- rs756272252
- ClinGen CA4432473
- ClinVar RCV001291245
- ClinVar RCV001378586
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- 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 HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)