P29H (p.Pro29His) variant of SMARCA2 (P51531)
P29H (p.Pro29His) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P29H (p.Pro29His) variant details
- p.Pro29His
- gnomAD 9-2029108-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.50
- AlphaMissense 0.73
- MetaLR 0.79
- MetaSVM 0.68
- CADD 24.30
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available