A42T (p.Ala42Thr) variant of PTCH1 (Protein patched homolog 1)
A42T (p.Ala42Thr) 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.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- Ensembl rs2118908042
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available