R32W (p.Arg32Trp) variant of PTCH1 (Protein patched homolog 1)
R32W (p.Arg32Trp) 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.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- gnomAD rs913603578
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available