S783L (p.Ser783Leu) variant of SMARCA2 (P51531)
S783L (p.Ser783Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SMARCA2-related BAFopathy; not provided; Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
S783L (p.Ser783Leu) variant details
- p.Ser783Leu
- rs1554623112
- ClinGen CA372784349
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61809
- Pathogenic/Likely pathogenic
- SMARCA2-related BAFopathy; not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (SMARCA2-related BAFopathy; not provided; Nicolaides-Baraitser sy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)