M61V (p.Met61Val) variant of OTOF (Otoferlin)
M61V (p.Met61Val) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M61V (p.Met61Val) variant details
- p.Met61Val
- ExAC rs764717002
- TOPMed rs764717002
- gnomAD rs764717002
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- CADD 9.73
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available