G1129D (p.Gly1129Asp) variant of SMARCA2 (P51531)
G1129D (p.Gly1129Asp) 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 0.86 / 1. The record also includes structural context.
G1129D (p.Gly1129Asp) variant details
- p.Gly1129Asp
- rs1057523836
- ClinGen CA16605815
- ClinVar RCV000442641
- Ensembl rs1057523836
- Pathogenic
- not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (not provided; Nicolaides-Baraitser syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available