S32Y (p.Ser32Tyr) variant of OTOF (Otoferlin)
S32Y (p.Ser32Tyr) in OTOF (Otoferlin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S32Y (p.Ser32Tyr) variant details
- p.Ser32Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.53
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available