A14T (p.Ala14Thr) variant of SUFU (Suppressor of fused homolog)
A14T (p.Ala14Thr) 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 0.35 / 1. The record also includes published literature and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs1460606381
- ClinGen CA377886217
- ClinVar RCV003310401
- ClinVar RCV006561338
- Uncertain significance
- Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.81
- PolyPhen-2 0.06
- SIFT 0.02
- MutPred 0.17
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)