A25V (p.Ala25Val) variant of SUFU (Suppressor of fused homolog)
A25V (p.Ala25Val) 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 0.34 / 1. The record also includes published literature and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs2062291323
- ClinGen CA377886358
- ClinVar RCV001344752
- ClinVar RCV002395755
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.90
- PolyPhen-2 0.33
- SIFT 0.07
- EVE 0.19
- 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)