L963P (p.Leu963Pro) variant of RET (P07949)
L963P (p.Leu963Pro) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hirschsprung disease, susceptibility to, 1. The record also includes structural context.
L963P (p.Leu963Pro) variant details
- p.Leu963Pro
- rs2538616392
- ClinGen CA376557893
- ClinVar RCV004555733
- Likely pathogenic
- Hirschsprung disease, susceptibility to, 1
- Missense
- ClinVar: Likely pathogenic (Hirschsprung disease, susceptibility to, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available