V66I (p.Val66Ile) variant of OTOF (Otoferlin)
V66I (p.Val66Ile) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- TOPMed rs1572479737
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available