A22G (p.Ala22Gly) variant of SUFU (Suppressor of fused homolog)
A22G (p.Ala22Gly) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs761240106
- ClinGen CA5667586
- ClinVar RCV000474319
- ClinVar RCV002365622
- Conflicting interpretations
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- CADD 21.90
- PolyPhen-2 0.36
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)