G45W (p.Gly45Trp) variant of SMARCA2 (P51531)
G45W (p.Gly45Trp) 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, published literature, and structural context.
G45W (p.Gly45Trp) variant details
- p.Gly45Trp
- gnomAD 9-2029155-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.64
- AlphaMissense 0.97
- MetaLR 0.87
- MetaSVM 0.90
- CADD 32.00
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available