A7P (p.Ala7Pro) variant of PTCH1 (Protein patched homolog 1)
A7P (p.Ala7Pro) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- TOPMed rs1843914764
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available