H71H (p.His71His) variant of MMACHC (Q9Y4U1)
H71H (p.His71His) in MMACHC (Q9Y4U1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H71H (p.His71His) variant details
- p.His71His
- rs746112343
- gnomAD 1-45507487-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.77
- Population evidence available
- Structural context available
- Literature evidence available