H112Q (p.His112Gln) variant of MMADHC (Q9H3L0)
H112Q (p.His112Gln) in MMADHC (Q9H3L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H112Q (p.His112Gln) variant details
- p.His112Gln
- ExAC rs746192843
- TOPMed rs746192843
- gnomAD rs746192843
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.52
- CADD 12.00
- PolyPhen-2 0.19
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.8e-05)
- Structural context available