M21L (p.Met21Leu) variant of OTC (P00480)
M21L (p.Met21Leu) in OTC (P00480) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
M21L (p.Met21Leu) variant details
- p.Met21Leu
- ExAC rs755909408
- gnomAD rs755909408
- Likely benign
- Missense
- MetaLR 0.75
- MetaSVM 0.35
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available