V114M (p.Val114Met) variant of OTOF (Otoferlin)
V114M (p.Val114Met) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V114M (p.Val114Met) variant details
- p.Val114Met
- rs376117319
- ClinGen CA1564693
- ClinVar RCV002884119
- ClinVar RCV003730300
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.06
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)