R73Q (p.Arg73Gln) variant of MMACHC (Q9Y4U1)
R73Q (p.Arg73Gln) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R73Q (p.Arg73Gln) variant details
- p.Arg73Gln
- Ensembl rs1553162783
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.32
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available