R1162H (p.Arg1162His) variant of SMARCA2 (P51531)
R1162H (p.Arg1162His) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1162H (p.Arg1162His) variant details
- p.Arg1162His
- rs281875186
- ClinGen CA211271
- NCI-TCGA Cosmic COSV6180
- cosmic curated COSV61805
- Pathogenic/Likely pathogenic
- not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.01
- CADD 32.00
- PolyPhen-2 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Nicolaides-Baraitser syndrome)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Population evidence available
- Structural context available
- Cited in: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. (PMID 22366787)
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)