P23L (p.Pro23Leu) variant of SUFU (Suppressor of fused homolog)
P23L (p.Pro23Leu) 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 Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome. 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.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs2062290972
- ClinGen CA377886338
- ClinVar RCV001337733
- ClinVar RCV002377432
- Conflicting interpretations
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.10
- AlphaMissense 0.10
- MetaLR 0.17
- MetaSVM -0.89
- CADD 24.10
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)