I21S (p.Ile21Ser) variant of PTCH1 (Protein patched homolog 1)
I21S (p.Ile21Ser) 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.
I21S (p.Ile21Ser) variant details
- p.Ile21Ser
- Ensembl rs1843904837
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available