Y73S (p.Tyr73Ser) variant of SMARCE1 (Q969G3)
Y73S (p.Tyr73Ser) in SMARCE1 (Q969G3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Coffin-Siris syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
Y73S (p.Tyr73Ser) variant details
- p.Tyr73Ser
- rs387906857
- ClinGen CA10576104
- ClinVar RCV000211089
- UniProt VAR 076932
- Pathogenic
- Coffin-Siris syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Coffin-Siris syndrome 5)
- EBI: Pathogenic (in CSS5)
- UniProt: Pathogenic (in CSS5)
- Structural context available
- Cited in: A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and… (PMID 23906836)
- Cited in: Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. (PMID 22426308)