P56R (p.Pro56Arg) variant of SMARCA2 (P51531)
P56R (p.Pro56Arg) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P56R (p.Pro56Arg) variant details
- p.Pro56Arg
- TOPMed rs893093652
- gnomAD rs893093652
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.27
- AlphaMissense 0.30
- MetaLR 0.47
- MetaSVM -0.28
- CADD 21.50
- PolyPhen-2 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available