D84V (p.Asp84Val) variant of BAK1 (Q16611)
D84V (p.Asp84Val) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D84V (p.Asp84Val) variant details
- p.Asp84Val
- gnomAD 6-33575397-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.24
- MetaLR 0.03
- MetaSVM -1.14
- CADD 26.10
- PolyPhen-2 0.89
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available