L41P (p.Leu41Pro) variant of BUB1B (O60566)
L41P (p.Leu41Pro) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- gnomAD 15-40165139-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.73
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available