I81L (p.Ile81Leu) variant of BAK1 (Q16611)
I81L (p.Ile81Leu) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I81L (p.Ile81Leu) variant details
- p.Ile81Leu
- TOPMed rs1049800577
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 25.90
- PolyPhen-2 0.53
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available