A49S (p.Ala49Ser) variant of MMACHC (Q9Y4U1)
A49S (p.Ala49Ser) in MMACHC (Q9Y4U1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- ExAC rs775502093
- TOPMed rs775502093
- gnomAD rs775502093
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.88
- AlphaMissense 0.92
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available