H12R (p.His12Arg) variant of SMARCA2 (P51531)
H12R (p.His12Arg) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H12R (p.His12Arg) variant details
- p.His12Arg
- TOPMed rs1450657913
- gnomAD rs1450657913
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.30
- AlphaMissense 0.53
- MetaLR 0.38
- MetaSVM -0.46
- CADD 22.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available