G1132D (p.Gly1132Asp) variant of SMARCA2 (P51531)
G1132D (p.Gly1132Asp) 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.
G1132D (p.Gly1132Asp) variant details
- p.Gly1132Asp
- rs387907194
- ClinGen CA211284
- NCI-TCGA Cosmic COSV6180
- ClinVar RCV000024365
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with… (PMID 22822383)
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)