P44R (p.Pro44Arg) variant of MMACHC (Q9Y4U1)
P44R (p.Pro44Arg) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P44R (p.Pro44Arg) variant details
- p.Pro44Arg
- ExAC rs774414508
- TOPMed rs774414508
- gnomAD rs774414508
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.61
- CADD 23.60
- PolyPhen-2 0.87
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available