G14E (p.Gly14Glu) variant of SMARCA2 (P51531)
G14E (p.Gly14Glu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G14E (p.Gly14Glu) variant details
- p.Gly14Glu
- gnomAD 9-2029063-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.65
- AlphaMissense 0.91
- MetaLR 0.81
- MetaSVM 0.77
- CADD 28.60
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available