P33Q (p.Pro33Gln) variant of SMARCA2 (P51531)
P33Q (p.Pro33Gln) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P33Q (p.Pro33Gln) variant details
- p.Pro33Gln
- gnomAD 9-2029120-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.35
- AlphaMissense 0.27
- MetaLR 0.74
- MetaSVM 0.50
- CADD 23.00
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available