Q56K (p.Gln56Lys) variant of BUB1B (O60566)
Q56K (p.Gln56Lys) in BUB1B (O60566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q56K (p.Gln56Lys) variant details
- p.Gln56Lys
- Ensembl rs1017567589
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.16
- MetaLR 0.30
- MetaSVM -0.60
- CADD 27.00
- PolyPhen-2 0.76
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available