E122K (p.Glu122Lys) variant of MMADHC (Q9H3L0)
E122K (p.Glu122Lys) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Methylmalonic aciduria and homocystinuria type cblD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E122K (p.Glu122Lys) variant details
- p.Glu122Lys
- rs777544556
- ClinGen CA1902444
- ClinVar RCV001091564
- ClinVar RCV002555952
- Uncertain significance
- not provided; Methylmalonic aciduria and homocystinuria type cblD
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- CADD 27.90
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Methylmalonic aciduria and homocystinuria type cbl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)