L49M (p.Leu49Met) variant of H6PD (O95479)
L49M (p.Leu49Met) in H6PD (O95479) is a missense change. The record also includes variant effect predictions and structural context.
L49M (p.Leu49Met) variant details
- p.Leu49Met
- cosmic curated COSV66231
- gnomAD rs1429972842
- Missense
- MetaLR 0.98
- MetaSVM 1.07
- SIFT 0.01
- Structural context available