D57Y (p.Asp57Tyr) variant of BAK1 (Q16611)
D57Y (p.Asp57Tyr) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D57Y (p.Asp57Tyr) variant details
- p.Asp57Tyr
- gnomAD 6-33575830-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.12
- MetaLR 0.02
- MetaSVM -1.09
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available