L529V (p.Leu529Val) variant of SMARCA2 (P51531)
L529V (p.Leu529Val) 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 0.64 / 1. The record also includes published literature and structural context.
L529V (p.Leu529Val) variant details
- p.Leu529Val
- rs1586660389
- ClinGen CA372782516
- ClinVar RCV001029744
- ClinVar RCV001261962
- Pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic (in BIS)
- UniProt: Pathogenic (in BIS)
- Structural context available
- Cited in: De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual… (PMID 32694869)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)