R40P (p.Arg40Pro) variant of PTCH1 (Protein patched homolog 1)
R40P (p.Arg40Pro) 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.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- ExAC rs755400723
- gnomAD rs755400723
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available