Q957R (p.Gln957Arg) variant of SMARCA2 (P51531)
Q957R (p.Gln957Arg) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Blepharophimosis-impaired intellectual development syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
Q957R (p.Gln957Arg) variant details
- p.Gln957Arg
- rs2537347573
- ClinGen CA372785587
- ClinVar RCV002471645
- Likely pathogenic
- Blepharophimosis-impaired intellectual development syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.68
- AlphaMissense 0.84
- MetaLR 0.55
- MetaSVM 0.14
- CADD 28.10
- PolyPhen-2 0.98
- ClinVar: Likely pathogenic (Blepharophimosis-impaired intellectual development syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available