Q73R (p.Gln73Arg) variant of MMADHC (Q9H3L0)
Q73R (p.Gln73Arg) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q73R (p.Gln73Arg) variant details
- p.Gln73Arg
- TOPMed rs1008765976
- gnomAD rs1008765976
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.76
- CADD 24.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available