N72S (p.Asn72Ser) variant of BUB1B (O60566)
N72S (p.Asn72Ser) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- gnomAD 15-40170097-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.15
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available