R24G (p.Arg24Gly) variant of MMADHC (Q9H3L0)
R24G (p.Arg24Gly) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- TOPMed rs904420258
- gnomAD rs904420258
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.85
- CADD 27.60
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available