H35R (p.His35Arg) variant of SUFU (Suppressor of fused homolog)
H35R (p.His35Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H35R (p.His35Arg) variant details
- p.His35Arg
- rs2062292023
- ClinGen CA377886478
- ClinVar RCV001309570
- Ensembl rs2062292023
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)