A42V (p.Ala42Val) variant of PTCH1 (Protein patched homolog 1)
A42V (p.Ala42Val) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- TOPMed rs1030446889
- gnomAD rs1030446889
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available