A27T (p.Ala27Thr) variant of SUFU (Suppressor of fused homolog)
A27T (p.Ala27Thr) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs2062291537
- ClinGen CA377886376
- ClinVar RCV001213520
- ClinVar RCV002418731
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.05
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Medulloblastoma; Gorlin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)