R1105C (p.Arg1105Cys) variant of SMARCA2 (P51531)
R1105C (p.Arg1105Cys) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R1105C (p.Arg1105Cys) variant details
- p.Arg1105Cys
- rs281875192
- ClinGen CA219888
- cosmic curated COSV61805
- ClinVar RCV000059670
- Pathogenic
- not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (not provided; Nicolaides-Baraitser syndrome)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Structural context available
- Cited in: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID 22366787)
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)