D534Y (p.Asp534Tyr) variant of SMARCA2 (P51531)
D534Y (p.Asp534Tyr) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Nicolaides-Baraitser syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
D534Y (p.Asp534Tyr) variant details
- p.Asp534Tyr
- rs863224922
- ClinGen CA278948
- ClinVar RCV000196887
- ClinVar RCV003223620
- Pathogenic/Likely pathogenic
- Nicolaides-Baraitser syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Nicolaides-Baraitser syndrome; not provided)
- EBI: Pathogenic (in BIS)
- UniProt: Pathogenic (in BIS)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)