D103G (p.Asp103Gly) variant of OTOF (Otoferlin)
D103G (p.Asp103Gly) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D103G (p.Asp103Gly) variant details
- p.Asp103Gly
- gnomAD rs1359275167
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available