G43V (p.Gly43Val) variant of BUB1B (O60566)
G43V (p.Gly43Val) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- gnomAD 15-40165145-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.06
- CADD 24.80
- PolyPhen-2 0.65
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available