L116V (p.Leu116Val) variant of MMACHC (Q9Y4U1)
L116V (p.Leu116Val) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L116V (p.Leu116Val) variant details
- p.Leu116Val
- rs2149323564
- ClinGen CA340132231
- ClinVar RCV002050458
- Ensembl rs2149323564
- Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.83
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Cobalamin C disease)
- EBI: Likely pathogenic (in MAHCC)
- UniProt: Likely pathogenic (in MAHCC)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)