A56G (p.Ala56Gly) variant of BAK1 (Q16611)
A56G (p.Ala56Gly) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A56G (p.Ala56Gly) variant details
- p.Ala56Gly
- gnomAD 6-33575832-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.95
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available