H11R (p.His11Arg) variant of MMAA (Q8IVH4)
H11R (p.His11Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
H11R (p.His11Arg) variant details
- p.His11Arg
- ExAC rs749076210
- TOPMed rs749076210
- gnomAD rs749076210
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available