F68C (p.Phe68Cys) variant of BUB1B (O60566)
F68C (p.Phe68Cys) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F68C (p.Phe68Cys) variant details
- p.Phe68Cys
- rs2037144342
- ClinGen CA391678418
- ClinVar RCV001776426
- gnomAD rs2037144342
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.49
- MetaLR 0.40
- MetaSVM -0.23
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available