L37* (p.Leu37Ter) variant of MCCC2 (Q9HCC0)
L37* (p.Leu37Ter) in MCCC2 (Q9HCC0) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
L37* (p.Leu37Ter) variant details
- p.Leu37Ter
- rs2530684724
- ClinVar RCV004574835
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available