P35Q (p.Pro35Gln) variant of SMARCA2 (P51531)
P35Q (p.Pro35Gln) 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.
P35Q (p.Pro35Gln) variant details
- p.Pro35Gln
- gnomAD 9-2029126-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- AlphaMissense 0.25
- MetaLR 0.49
- MetaSVM -0.10
- CADD 22.80
- PolyPhen-2 0.74
- Population evidence available
- Structural context available
- Literature evidence available