R420C (p.Arg420Cys) variant of SMARCA2 (P51531)
R420C (p.Arg420Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R420C (p.Arg420Cys) variant details
- p.Arg420Cys
- rs1207202747
- ClinGen CA372781719
- cosmic curated COSV61810
- ClinVar RCV003329105
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.53
- AlphaMissense 0.98
- MetaLR 0.60
- MetaSVM 0.28
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)