D83H (p.Asp83His) variant of MCCC1 (Q96RQ3)
D83H (p.Asp83His) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
D83H (p.Asp83His) variant details
- p.Asp83His
- rs1485157465
- ClinGen CA355321610
- ClinVar RCV001301558
- TOPMed rs1485157465
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.48
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available