K70E (p.Lys70Glu) variant of MCCC1 (Q96RQ3)
K70E (p.Lys70Glu) 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 0.57 / 1. The record also includes population frequency data and structural context.
K70E (p.Lys70Glu) variant details
- p.Lys70Glu
- rs750133436
- ClinGen CA2719167
- ClinVar RCV001277566
- ClinVar RCV001880230
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.51
- CADD 26.50
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available