G752R (p.Gly752Arg) variant of SMARCA2 (P51531)
G752R (p.Gly752Arg) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nicolaides-Baraitser syndrome; SMARCA2-related BAFopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G752R (p.Gly752Arg) variant details
- p.Gly752Arg
- rs1821581008
- ClinGen CA372784142
- ClinVar RCV001335088
- ClinVar RCV001533097
- Likely pathogenic
- Nicolaides-Baraitser syndrome; SMARCA2-related BAFopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome; SMARCA2-related BAFopathy)
- EBI: Likely pathogenic (in NCBRS)
- UniProt: Likely pathogenic (in NCBRS)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)