A22D (p.Ala22Asp) variant of SUFU (Suppressor of fused homolog)
A22D (p.Ala22Asp) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- rs761240106
- ClinGen CA377886325
- ClinVar RCV001308204
- ClinVar RCV002366155
- Uncertain significance
- Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.26
- CADD 23.90
- PolyPhen-2 0.67
- SIFT 0.08
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome; Hereditary cancer-predisposing)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-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)