A44T (p.Ala44Thr) variant of PTCH1 (Protein patched homolog 1)
A44T (p.Ala44Thr) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- ESP rs148863241
- TOPMed rs148863241
- gnomAD rs148863241
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available