G11R (p.Gly11Arg) variant of SMARCB1 (Q12824)
G11R (p.Gly11Arg) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs1555875308
- ClinGen CA410930583
- ClinVar RCV000522979
- ClinVar RCV001260856
- Conflicting interpretations
- Intellectual disability; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.36
- ClinVar: Conflicting classifications of pathogenicity (Intellectual disability; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.624
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)