M62V (p.Met62Val) variant of MMADHC (Q9H3L0)
M62V (p.Met62Val) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
M62V (p.Met62Val) variant details
- p.Met62Val
- rs780676909
- ClinGen CA1902467
- cosmic curated COSV57574
- ClinVar RCV002972358
- Uncertain significance
- Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 0.72
- SIFT 0.02
- ClinVar: Uncertain significance (Methylmalonic aciduria and homocystinuria type cblD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)