P944L (p.Pro944Leu) variant of SMARCA2 (P51531)
P944L (p.Pro944Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nicolaides-Baraitser syndrome. The record also includes published literature and structural context.
P944L (p.Pro944Leu) variant details
- p.Pro944Leu
- rs2537347486
- ClinGen CA372785500
- ClinVar RCV004442859
- Uncertain significance
- Nicolaides-Baraitser syndrome
- Missense
- ClinVar: Uncertain significance (Nicolaides-Baraitser syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)