L100Q (p.Leu100Gln) variant of BAK1 (Q16611)
L100Q (p.Leu100Gln) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L100Q (p.Leu100Gln) variant details
- p.Leu100Gln
- gnomAD 6-33575349-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.37
- MetaLR 0.06
- MetaSVM -1.13
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available