P33R (p.Pro33Arg) variant of SMARCA2 (P51531)
P33R (p.Pro33Arg) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- TOPMed rs1469165256
- gnomAD rs1469165256
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.57
- AlphaMissense 0.53
- MetaLR 0.75
- MetaSVM 0.60
- CADD 23.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available