G15D (p.Gly15Asp) variant of OTOF (Otoferlin)
G15D (p.Gly15Asp) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- ESP rs370677816
- ExAC rs370677816
- TOPMed rs370677816
- gnomAD rs370677816
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.44
- CADD 22.30
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- Structural context available