E25G (p.Glu25Gly) variant of BAK1 (Q16611)
E25G (p.Glu25Gly) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD 6-33575925-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.93
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.42
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available