R161L (p.Arg161Leu) variant of MMACHC (Q9Y4U1)
R161L (p.Arg161Leu) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; not provided; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
R161L (p.Arg161Leu) variant details
- p.Arg161Leu
- rs121918243
- ClinGen CA340133171
- ClinVar RCV002834505
- Likely pathogenic
- Inborn genetic diseases; not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- AlphaMissense 0.76
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Likely pathogenic (in MAHCC)
- UniProt: Likely pathogenic (in MAHCC)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)