V41M (p.Val41Met) variant of OTOF (Otoferlin)
V41M (p.Val41Met) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V41M (p.Val41Met) variant details
- p.Val41Met
- TOPMed rs1178898000
- gnomAD rs1178898000
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.15
- CADD 21.30
- PolyPhen-2 0.36
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available