G24E (p.Gly24Glu) variant of SMARCA2 (P51531)
G24E (p.Gly24Glu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G24E (p.Gly24Glu) variant details
- p.Gly24Glu
- TOPMed rs1236752228
- gnomAD rs1236752228
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.61
- AlphaMissense 0.95
- MetaLR 0.78
- MetaSVM 0.69
- CADD 27.00
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available