A36V (p.Ala36Val) variant of SUFU (Suppressor of fused homolog)
A36V (p.Ala36Val) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs566714720
- ClinGen CA5667593
- ClinVar RCV000228401
- ClinVar RCV001009837
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.67
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)