T13I (p.Thr13Ile) variant of SUFU (Suppressor of fused homolog)
T13I (p.Thr13Ile) 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; Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T13I (p.Thr13Ile) variant details
- p.Thr13Ile
- rs768935165
- ClinGen CA5667581
- ClinVar RCV001021386
- ClinVar RCV001054304
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.07
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medull)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00022)
- 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)