G11R (p.Gly11Arg) variant of SUFU (Suppressor of fused homolog)
G11R (p.Gly11Arg) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial meningioma; Basal cell nevus syndrome 2; Joubert syndrome 32. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs1322807658
- ClinGen CA377886157
- ClinVar RCV002256837
- ClinVar RCV003238000
- Conflicting interpretations
- Familial meningioma; Basal cell nevus syndrome 2; Joubert syndrome 32
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.14
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Familial meningioma; Basal cell nevus syndrome 2; Joubert syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.024)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)