M15V (p.Met15Val) variant of BUB1B (O60566)
M15V (p.Met15Val) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, 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 0.19 / 1. The record also includes population frequency data and structural context.
M15V (p.Met15Val) variant details
- p.Met15Val
- ExAC rs769542191
- TOPMed rs769542191
- gnomAD rs769542191
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.05
- CADD 18.60
- PolyPhen-2 0.16
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in a colorectal cancer cell line)
- UniProt: Uncertain significance (in a colorectal cancer cell line)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available