V4E (p.Val4Glu) variant of BUB1B (O60566)
V4E (p.Val4Glu) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V4E (p.Val4Glu) variant details
- p.Val4Glu
- gnomAD 15-40161231-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.00
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available