Q10H (p.Gln10His) variant of MMACHC (Q9Y4U1)
Q10H (p.Gln10His) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- ExAC rs772838196
- gnomAD rs772838196
- Uncertain significance
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.28
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.08
- ClinVar: Uncertain significance (Cobalamin C disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available