A42D (p.Ala42Asp) variant of OTOF (Otoferlin)
A42D (p.Ala42Asp) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- gnomAD rs763649380
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.49
- CADD 24.00
- PolyPhen-2 0.32
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available