Q132R (p.Gln132Arg) variant of MMADHC (Q9H3L0)
Q132R (p.Gln132Arg) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q132R (p.Gln132Arg) variant details
- p.Gln132Arg
- TOPMed rs1232191985
- gnomAD rs1232191985
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available