T484P (p.Thr484Pro) variant of MCCC2 (Q9HCC0)
T484P (p.Thr484Pro) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
T484P (p.Thr484Pro) variant details
- p.Thr484Pro
- rs1554138549
- ClinGen CA359999203
- ClinVar RCV000532761
- Ensembl rs1554138549
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.88
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.46
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available