V84A (p.Val84Ala) variant of OTOF (Otoferlin)
V84A (p.Val84Ala) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V84A (p.Val84Ala) variant details
- p.Val84Ala
- rs727505096
- ClinGen CA185050
- ClinVar RCV000156540
- ClinVar RCV002515025
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.40
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available