P51Q (p.Pro51Gln) variant of OTOF (Otoferlin)
P51Q (p.Pro51Gln) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P51Q (p.Pro51Gln) variant details
- p.Pro51Gln
- ESP rs150132765
- ExAC rs150132765
- TOPMed rs150132765
- gnomAD rs150132765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available