G11D (p.Gly11Asp) variant of SUFU (Suppressor of fused homolog)
G11D (p.Gly11Asp) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gorlin syndrome; Medulloblastoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- rs1227379293
- ClinGen CA377886163
- cosmic curated COSV64016
- ClinVar RCV000707040
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.15
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.74
- CADD 23.40
- PolyPhen-2 0.95
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)