M61L (p.Met61Leu) variant of OTOF (Otoferlin)
M61L (p.Met61Leu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M61L (p.Met61Leu) variant details
- p.Met61Leu
- ExAC rs764717002
- TOPMed rs764717002
- gnomAD rs764717002
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.17
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available