A49P (p.Ala49Pro) variant of BAK1 (Q16611)
A49P (p.Ala49Pro) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A49P (p.Ala49Pro) variant details
- p.Ala49Pro
- gnomAD 6-33575854-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 16.60
- PolyPhen-2 0.24
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available