A36T (p.Ala36Thr) variant of SUFU (Suppressor of fused homolog)
A36T (p.Ala36Thr) 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 0.55 / 1. The record also includes published literature and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs2135598210
- ClinGen CA377886490
- ClinVar RCV002298398
- ClinVar RCV005742435
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.36
- MetaLR 0.59
- MetaSVM 0.31
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.22
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)