A9G (p.Ala9Gly) variant of SMARCA2 (P51531)
A9G (p.Ala9Gly) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- gnomAD 9-2029048-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.28
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.70
- CADD 17.50
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available