S74R (p.Ser74Arg) variant of OTOF (Otoferlin)
S74R (p.Ser74Arg) in OTOF (Otoferlin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S74R (p.Ser74Arg) variant details
- p.Ser74Arg
- rs764474318
- ClinGen CA1564768
- ClinVar RCV001960809
- ExAC rs764474318
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available