S49P (p.Ser49Pro) variant of BUB1B (O60566)
S49P (p.Ser49Pro) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- gnomAD 15-40165162-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- CADD 23.10
- PolyPhen-2 0.55
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available