V635D (p.Val635Asp) variant of OTOF (Otoferlin)
V635D (p.Val635Asp) 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 0.69 / 1. The record also includes published literature and structural context.
V635D (p.Val635Asp) variant details
- p.Val635Asp
- rs1558488902
- ClinGen CA346131667
- ClinVar RCV000681535
- ClinVar RCV001291116
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 9; Hearing loss, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.64
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 9; Hearing loss, a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)