G881V (p.Gly881Val) variant of SMARCA2 (P51531)
G881V (p.Gly881Val) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G881V (p.Gly881Val) variant details
- p.Gly881Val
- rs281875185
- ClinGen CA211269
- ClinVar RCV000022913
- ClinVar RCV000059665
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (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)