D59H (p.Asp59His) variant of MMAA (Q8IVH4)
D59H (p.Asp59His) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D59H (p.Asp59His) variant details
- p.Asp59His
- rs371779800
- ClinGen CA3095136
- ClinVar RCV000820945
- ESP rs371779800
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.74
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)