D60H (p.Asp60His) variant of MMACHC (Q9Y4U1)
D60H (p.Asp60His) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Disorders of Intracellular Cobalamin Metabolism; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D60H (p.Asp60His) variant details
- p.Asp60His
- rs6662272
- ClinGen CA292117
- ClinVar RCV000126792
- ClinVar RCV000224616
- Benign
- Disorders of Intracellular Cobalamin Metabolism; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.77
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Benign (Disorders of Intracellular Cobalamin Metabolism; not specified;)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.2)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)