G45E (p.Gly45Glu) variant of SMARCA2 (P51531)
G45E (p.Gly45Glu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- gnomAD rs1219506276
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.67
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.90
- CADD 29.00
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available