M91T (p.Met91Thr) variant of MCCC1 (Q96RQ3)
M91T (p.Met91Thr) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
M91T (p.Met91Thr) variant details
- p.Met91Thr
- rs1333663197
- ClinGen CA355321494
- ClinVar RCV001306025
- gnomAD rs1333663197
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available