R66H (p.Arg66His) variant of MCCC1 (Q96RQ3)
R66H (p.Arg66His) 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 0.69 / 1. The record also includes population frequency data and structural context.
R66H (p.Arg66His) variant details
- p.Arg66His
- rs569042803
- ClinGen CA2719170
- NCI-TCGA Cosmic COSV5560
- cosmic curated COSV55607
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.83
- CADD 25.00
- PolyPhen-2 0.48
- SIFT 0.02
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available