A9S (p.Ala9Ser) variant of SMARCA2 (P51531)
A9S (p.Ala9Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 9-2029047-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.18
- AlphaMissense 0.09
- MetaLR 0.42
- MetaSVM -0.51
- CADD 17.70
- PolyPhen-2 0.03
- Population evidence available
- Structural context available
- Literature evidence available