G45R (p.Gly45Arg) variant of MMACHC (Q9Y4U1)
G45R (p.Gly45Arg) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- TOPMed rs1312343436
- gnomAD rs1312343436
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.50
- CADD 23.30
- PolyPhen-2 0.65
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available