P4L (p.Pro4Leu) variant of SMARCA2 (P51531)
P4L (p.Pro4Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- TOPMed rs1182303341
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.64
- AlphaMissense 0.72
- MetaLR 0.86
- MetaSVM 0.90
- CADD 26.70
- PolyPhen-2 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available