I81I (p.Ile81Ile) variant of BAK1 (Q16611)
I81I (p.Ile81Ile) in BAK1 (Q16611) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I81I (p.Ile81Ile) variant details
- p.Ile81Ile
- rs1051913
- gnomAD 6-33575405-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 8.23
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: BAK1 gene variation and abdominal aortic aneurysms--results may have been prematurely overrated. (PMID 20879008)