Q44L (p.Gln44Leu) variant of BAK1 (Q16611)
Q44L (p.Gln44Leu) 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.
Q44L (p.Gln44Leu) variant details
- p.Gln44Leu
- gnomAD 6-33575868-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.79
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available