G445R (p.Gly445Arg) variant of PTCH1 (Protein patched homolog 1)
G445R (p.Gly445Arg) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gorlin syndrome. The record also includes structural context.
G445R (p.Gly445Arg) variant details
- p.Gly445Arg
- Ensembl rs2118329828
- Likely pathogenic
- Gorlin syndrome
- Missense
- ClinVar: Likely pathogenic (Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available