A435T (p.Ala435Thr) variant of MCCC1 (Q96RQ3)
A435T (p.Ala435Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 population frequency data and structural context.
A435T (p.Ala435Thr) variant details
- p.Ala435Thr
- rs142507365
- ClinGen CA2718816
- ClinVar RCV000804238
- ClinVar RCV001275507
- Pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.90
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available