S11L (p.Ser11Leu) variant of OTOF (Otoferlin)
S11L (p.Ser11Leu) 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 0.22 / 1. The record also includes population frequency data and structural context.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- rs200972155
- ClinGen CA1564846
- cosmic curated COSV55501
- ClinVar RCV001575943
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- CADD 17.80
- PolyPhen-2 0.19
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available