Q28K (p.Gln28Lys) variant of OTOF (Otoferlin)
Q28K (p.Gln28Lys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q28K (p.Gln28Lys) variant details
- p.Gln28Lys
- 1000Genomes rs770168563
- ExAC rs770168563
- gnomAD rs770168563
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.07
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available