Y31C (p.Tyr31Cys) variant of OTOF (Otoferlin)
Y31C (p.Tyr31Cys) in OTOF (Otoferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Y31C (p.Tyr31Cys) variant details
- p.Tyr31Cys
- gnomAD rs1158246186
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.42
- CADD 26.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available