P18L (p.Pro18Leu) variant of SUFU (Suppressor of fused homolog)
P18L (p.Pro18Leu) 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 Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1489443369
- ClinGen CA377886273
- ClinVar RCV003176337
- ClinVar RCV003778944
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.13
- MetaLR 0.13
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medull)
- 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)