P152L (p.Pro152Leu) variant of MCCC1 (Q96RQ3)
P152L (p.Pro152Leu) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
P152L (p.Pro152Leu) variant details
- p.Pro152Leu
- rs1182086058
- ClinGen CA355331034
- ClinVar RCV001034783
- TOPMed rs1182086058
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.41
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available