A53S (p.Ala53Ser) variant of OTOF (Otoferlin)
A53S (p.Ala53Ser) in OTOF (Otoferlin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- 1000Genomes rs144915302
- ExAC rs144915302
- TOPMed rs144915302
- gnomAD rs144915302
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.07
- CADD 17.40
- PolyPhen-2 0.10
- SIFT 0.26
- EBI: Pathogenic (in dbSNP:rs1879761)
- UniProt: Pathogenic (in dbSNP:rs1879761)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available