R61G (p.Arg61Gly) variant of MMACHC (Q9Y4U1)
R61G (p.Arg61Gly) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R61G (p.Arg61Gly) variant details
- p.Arg61Gly
- gnomAD 1-45507455-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.25
- CADD 22.00
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available