M38I (p.Met38Ile) variant of BUB1B (O60566)
M38I (p.Met38Ile) in BUB1B (O60566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mosaic variegated aneuploidy syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- rs2140878505
- ClinGen CA391677132
- ClinVar RCV001987091
- Ensembl rs2140878505
- Uncertain significance
- Mosaic variegated aneuploidy syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.48
- MetaLR 0.03
- MetaSVM -1.10
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.45
- ClinVar: Uncertain significance (Mosaic variegated aneuploidy syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available