H88R (p.His88Arg) variant of MCCC1 (Q96RQ3)
H88R (p.His88Arg) 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 0.81 / 1. The record also includes population frequency data and structural context.
H88R (p.His88Arg) variant details
- p.His88Arg
- rs1352224093
- ClinGen CA355321537
- ClinVar RCV001918453
- TOPMed rs1352224093
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available