I56V (p.Ile56Val) variant of OTOF (Otoferlin)
I56V (p.Ile56Val) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- gnomAD rs1666848086
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.05
- CADD 14.90
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available