G8D (p.Gly8Asp) variant of SMARCA2 (P51531)
G8D (p.Gly8Asp) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- gnomAD 9-2029045-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.35
- AlphaMissense 0.65
- MetaLR 0.71
- MetaSVM 0.50
- CADD 23.40
- PolyPhen-2 0.95
- Population evidence available
- Structural context available
- Literature evidence available