N52N (p.Asn52Asn) variant of BUB1B (O60566)
N52N (p.Asn52Asn) in BUB1B (O60566) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N52N (p.Asn52Asn) variant details
- p.Asn52Asn
- rs1214786359
- gnomAD 15-40165173-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 11.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available