K26Q (p.Lys26Gln) variant of BUB1B (O60566)
K26Q (p.Lys26Gln) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K26Q (p.Lys26Gln) variant details
- p.Lys26Gln
- gnomAD 15-40165093-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.46
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available