G162R (p.Gly162Arg) variant of MMACHC (Q9Y4U1)
G162R (p.Gly162Arg) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
G162R (p.Gly162Arg) variant details
- p.Gly162Arg
- gnomAD rs1178984269
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.89
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available