G1905V (p.Gly1905Val) variant of OTOF (Otoferlin)
G1905V (p.Gly1905Val) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 9; Hearing loss, autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G1905V (p.Gly1905Val) variant details
- p.Gly1905Val
- rs1558464965
- ClinGen CA346129009
- ClinVar RCV000681539
- ClinVar RCV001291229
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 9; Hearing loss, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 9; Hearing loss, a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)