A61S (p.Ala61Ser) variant of BUB1B (O60566)
A61S (p.Ala61Ser) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A61S (p.Ala61Ser) variant details
- p.Ala61Ser
- gnomAD 15-40170063-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.12
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available