P20L (p.Pro20Leu) variant of SUFU (Suppressor of fused homolog)
P20L (p.Pro20Leu) 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. The record also includes published literature and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs2544830551
- ClinGen CA377886296
- ClinVar RCV003787810
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)