A9P (p.Ala9Pro) variant of SMARCA2 (P51531)
A9P (p.Ala9Pro) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- gnomAD 9-2029047-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.25
- AlphaMissense 0.20
- MetaLR 0.39
- MetaSVM -0.43
- CADD 22.50
- PolyPhen-2 0.51
- Population evidence available
- Structural context available
- Literature evidence available