Q10R (p.Gln10Arg) variant of MMACHC (Q9Y4U1)
Q10R (p.Gln10Arg) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- gnomAD 1-45500361-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- MetaLR 0.53
- MetaSVM -0.31
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available