Q1074E (p.Gln1074Glu) variant of SMARCA2 (P51531)
Q1074E (p.Gln1074Glu) 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 0.82 / 1. The record also includes published literature and structural context.
Q1074E (p.Gln1074Glu) variant details
- p.Gln1074Glu
- rs1822649338
- ClinGen CA372787356
- ClinVar RCV001265544
- Ensembl rs1822649338
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.91
- MetaLR 0.77
- MetaSVM 0.80
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)