A1160G (p.Ala1160Gly) variant of SMARCA2 (P51531)
A1160G (p.Ala1160Gly) 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 0.85 / 1. The record also includes published literature and structural context.
A1160G (p.Ala1160Gly) variant details
- p.Ala1160Gly
- rs2130599529
- ClinGen CA372788650
- ClinVar RCV001775434
- Ensembl rs2130599529
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.86
- MetaLR 0.83
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)