E33K (p.Glu33Lys) variant of BAK1 (Q16611)
E33K (p.Glu33Lys) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD 6-33575902-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.91
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available