A3A (p.Ala3Ala) variant of BUB1B (O60566)
A3A (p.Ala3Ala) in BUB1B (O60566) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs7168394
- gnomAD 15-40161229-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 9.02
- Most common in the HGDP:MBUTI population (allele frequency 0.67)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)