L4R (p.Leu4Arg) variant of SUFU (Suppressor of fused homolog)
L4R (p.Leu4Arg) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- rs1297525468
- ClinGen CA377886058
- ClinVar RCV002347186
- ClinVar RCV003776100
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.17
- CADD 24.40
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)