H93L (p.His93Leu) variant of OTOF (Otoferlin)
H93L (p.His93Leu) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H93L (p.His93Leu) variant details
- p.His93Leu
- gnomAD rs1458638479
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.13
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available