T25P (p.Thr25Pro) variant of NF1 (Neurofibromin)
T25P (p.Thr25Pro) in NF1 (Neurofibromin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hereditary cancer-predisposing syndrome. The record also includes structural context.
T25P (p.Thr25Pro) variant details
- p.Thr25Pro
- Ensembl rs2143625282
- Uncertain significance
- Cardiovascular phenotype; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hereditary cancer-predisposing syndrom)
- UniProt: Uncertain significance
- Structural context available