A22P (p.Ala22Pro) variant of SUFU (Suppressor of fused homolog)
A22P (p.Ala22Pro) 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 Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- rs1564654422
- ClinGen CA377886318
- ClinVar RCV001349569
- ClinVar RCV002368147
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.19
- CADD 24.80
- PolyPhen-2 0.67
- SIFT 0.24
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- 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)