P224T (p.Pro224Thr) variant of MCCC2 (Q9HCC0)
P224T (p.Pro224Thr) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P224T (p.Pro224Thr) variant details
- p.Pro224Thr
- rs2530808704
- ClinGen CA359983326
- ClinVar RCV003601418
- Pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.97
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available