P56H (p.Pro56His) variant of SMARCA2 (P51531)
P56H (p.Pro56His) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
P56H (p.Pro56His) variant details
- p.Pro56His
- TOPMed rs893093652
- gnomAD rs893093652
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.28
- AlphaMissense 0.12
- MetaLR 0.52
- MetaSVM -0.07
- CADD 21.60
- PolyPhen-2 0.19
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available