D81E (p.Asp81Glu) variant of MMADHC (Q9H3L0)
D81E (p.Asp81Glu) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D81E (p.Asp81Glu) variant details
- p.Asp81Glu
- TOPMed rs1302637256
- gnomAD rs1302637256
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.37
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available