D851G (p.Asp851Gly) variant of SMARCA2 (P51531)
D851G (p.Asp851Gly) 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 0.92 / 1. The record also includes published literature and structural context.
D851G (p.Asp851Gly) variant details
- p.Asp851Gly
- rs886041045
- ClinGen CA10590098
- ClinVar RCV000258017
- Ensembl rs886041045
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic (in NCBRS)
- UniProt: Likely pathogenic (in NCBRS)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)