L35P (p.Leu35Pro) variant of OTOF (Otoferlin)
L35P (p.Leu35Pro) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- gnomAD rs1425270742
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available