Y249C (p.Tyr249Cys) variant of MMADHC (Q9H3L0)
Y249C (p.Tyr249Cys) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria and homocystinuria type cblD; Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y249C (p.Tyr249Cys) variant details
- p.Tyr249Cys
- rs118204046
- ClinGen CA114488
- ClinVar RCV000000799
- ClinVar RCV001378885
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria and homocystinuria type cblD; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.89
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria and homocystinuria type cblD; Cobalamin C)
- EBI: Pathogenic (in HMAD)
- UniProt: Pathogenic (in HMAD)
- Most common in the South Asian population (allele frequency 0.00083)
- Structural context available
- Cited in: Gene identification for the cblD defect of vitamin B12 metabolism. (PMID 18385497)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)