R1105H (p.Arg1105His) variant of SMARCA2 (P51531)
R1105H (p.Arg1105His) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Nicolaides-Baraitser syndrome; Blepharophimosis-impaire. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
R1105H (p.Arg1105His) variant details
- p.Arg1105His
- rs281875197
- ClinGen CA372788006
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61806
- Pathogenic
- Inborn genetic diseases; Nicolaides-Baraitser syndrome; Blepharophimosis-impaire
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Inborn genetic diseases; Nicolaides-Baraitser syndrome; Blepharo)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)