E15K (p.Glu15Lys) variant of MCCC1 (Q96RQ3)
E15K (p.Glu15Lys) 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 0.46 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- rs988784745
- ClinGen CA88712121
- ClinVar RCV002675856
- Ensembl rs988784745
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.40
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available