H35Y (p.His35Tyr) variant of SUFU (Suppressor of fused homolog)
H35Y (p.His35Tyr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H35Y (p.His35Tyr) variant details
- p.His35Tyr
- rs2135598180
- ClinGen CA377886474
- cosmic curated COSV10528
- ClinVar RCV002389605
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)