G22R (p.Gly22Arg) variant of PTCH1 (Protein patched homolog 1)
G22R (p.Gly22Arg) 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.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- gnomAD rs1843904468
- 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