P33L (p.Pro33Leu) variant of SMARCA2 (P51531)
P33L (p.Pro33Leu) 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.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- gnomAD 9-2029120-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.50
- AlphaMissense 0.32
- MetaLR 0.75
- MetaSVM 0.60
- CADD 23.50
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available