A17P (p.Ala17Pro) variant of SUFU (Suppressor of fused homolog)
A17P (p.Ala17Pro) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- rs1332143456
- ClinGen CA377886254
- ClinVar RCV002343020
- ClinVar RCV005213686
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-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)