G334V (p.Gly334Val) variant of SLC26A4 (Pendrin)
G334V (p.Gly334Val) 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; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G334V (p.Gly334Val) variant details
- p.Gly334Val
- rs146281367
- ClinGen CA274302
- ClinVar RCV000169430
- ClinVar RCV000763146
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.93
- MetaSVM 1.04
- CADD 35.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome; Autosomal recessive nonsyndromic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)