L11V (p.Leu11Val) variant of BUB1B (O60566)
L11V (p.Leu11Val) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- ExAC rs776214483
- gnomAD rs776214483
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -1.00
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available