L41H (p.Leu41His) variant of MMACHC (Q9Y4U1)
L41H (p.Leu41His) in MMACHC (Q9Y4U1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L41H (p.Leu41His) variant details
- p.Leu41His
- rs2149323197
- gnomAD 1-45507395-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available