R5W (p.Arg5Trp) variant of SUFU (Suppressor of fused homolog)
R5W (p.Arg5Trp) 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 Hereditary cancer-predisposing syndrome; Familial meningioma; Gorlin 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.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- rs948353979
- ClinGen CA212238071
- cosmic curated COSV64015
- ClinVar RCV001228839
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial meningioma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- CADD 28.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial meningioma; Go)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)