A43S (p.Ala43Ser) variant of PTCH1 (Protein patched homolog 1)
A43S (p.Ala43Ser) in PTCH1 (Protein patched homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
A43S (p.Ala43Ser) variant details
- p.Ala43Ser
- ExAC rs766536174
- TOPMed rs766536174
- gnomAD rs766536174
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available