L24V (p.Leu24Val) variant of BUB1B (O60566)
L24V (p.Leu24Val) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- cosmic curated COSV55016
- ExAC rs774391455
- gnomAD rs774391455
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.17
- MetaLR 0.09
- MetaSVM -0.97
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.30
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available