Q70H (p.Gln70His) variant of MMADHC (Q9H3L0)
Q70H (p.Gln70His) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q70H (p.Gln70His) variant details
- p.Gln70His
- TOPMed rs1390472205
- gnomAD rs1390472205
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.36
- CADD 20.20
- Population evidence available
- Structural context available