N53S (p.Asn53Ser) variant of BUB1B (O60566)
N53S (p.Asn53Ser) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- gnomAD 15-40165175-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.12
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available