A10D (p.Ala10Asp) variant of BUB1B (O60566)
A10D (p.Ala10Asp) 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 0.31 / 1. The record also includes population frequency data and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- TOPMed rs1160797735
- gnomAD rs1160797735
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.04
- CADD 17.10
- PolyPhen-2 0.72
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available