T465I (p.Thr465Ile) variant of MCCC1 (Q96RQ3)
T465I (p.Thr465Ile) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T465I (p.Thr465Ile) variant details
- p.Thr465Ile
- rs1000891879
- ClinGen CA88701120
- ClinVar RCV001564641
- ClinVar RCV004587179
- Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.91
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available