V52M (p.Val52Met) variant of OTOF (Otoferlin)
V52M (p.Val52Met) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive nonsyndromic hearing loss 9; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- rs199992845
- ClinGen CA177571
- ClinVar RCV000151617
- ClinVar RCV000185572
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 9; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.79
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 9; not specified;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: OTOF-Related Hearing Loss. (PMID 20301429)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)