R54G (p.Arg54Gly) variant of MMADHC (Q9H3L0)
R54G (p.Arg54Gly) in MMADHC (Q9H3L0) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- TOPMed rs118204047
- gnomAD rs118204047
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.75
- CADD 24.00
- PolyPhen-2 0.43
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available