I21F (p.Ile21Phe) variant of PTCH1 (Protein patched homolog 1)
I21F (p.Ile21Phe) 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.
I21F (p.Ile21Phe) variant details
- p.Ile21Phe
- ExAC rs756724967
- TOPMed rs756724967
- gnomAD rs756724967
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available