A44P (p.Ala44Pro) variant of PTCH1 (Protein patched homolog 1)
A44P (p.Ala44Pro) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A44P (p.Ala44Pro) variant details
- p.Ala44Pro
- ESP rs148863241
- TOPMed rs148863241
- gnomAD rs148863241
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available