V29I (p.Val29Ile) variant of BUB1B (O60566)
V29I (p.Val29Ile) in BUB1B (O60566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- gnomAD 15-40165102-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.07
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available