P397A (p.Pro397Ala) variant of MCCC2 (Q9HCC0)
P397A (p.Pro397Ala) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
P397A (p.Pro397Ala) variant details
- p.Pro397Ala
- rs2112463755
- ClinGen CA359994517
- ClinVar RCV001971695
- ClinVar RCV004017888
- Pathogenic/Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.58
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available