L39V (p.Leu39Val) variant of PTCH1 (Protein patched homolog 1)
L39V (p.Leu39Val) 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.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- Ensembl rs1587700581
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available