A42V (p.Ala42Val) variant of OTOF (Otoferlin)
A42V (p.Ala42Val) 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.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD rs763649380
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available