A56D (p.Ala56Asp) variant of BAK1 (Q16611)
A56D (p.Ala56Asp) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A56D (p.Ala56Asp) variant details
- p.Ala56Asp
- gnomAD 6-33575832-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.93
- CADD 13.40
- PolyPhen-2 0.02
- SIFT 0.61
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available