P24L (p.Pro24Leu) variant of SUFU (Suppressor of fused homolog)
P24L (p.Pro24Leu) 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; Medulloblastoma; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs754218597
- ClinGen CA5667588
- ClinVar RCV003341958
- ClinVar RCV003777481
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Medulloblastoma; Gorlin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)