G6V (p.Gly6Val) variant of SLC26A4 (Pendrin)
G6V (p.Gly6Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- rs111033423
- ClinGen CA132679
- ClinVar RCV000036459
- ClinVar RCV000169379
- Conflicting interpretations
- not specified; not provided; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.47
- CADD 16.30
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Autosomal recessive nonsyndromic he)
- EBI: Benign (in dbSNP:rs111033423)
- UniProt: Benign (in dbSNP:rs111033423)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged… (PMID 20597900)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)