G8C (p.Gly8Cys) variant of SMARCA2 (P51531)
G8C (p.Gly8Cys) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- gnomAD 9-2029044-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- AlphaMissense 0.28
- MetaLR 0.77
- MetaSVM 0.58
- CADD 29.70
- PolyPhen-2 0.99
- Population evidence available
- Structural context available
- Literature evidence available