Q30R (p.Gln30Arg) variant of BUB1B (O60566)
Q30R (p.Gln30Arg) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- gnomAD 15-40165106-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- CADD 24.00
- PolyPhen-2 0.89
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available