R268G (p.Arg268Gly) variant of MCCC2 (Q9HCC0)
R268G (p.Arg268Gly) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R268G (p.Arg268Gly) variant details
- p.Arg268Gly
- rs756477001
- ClinGen CA3297887
- ClinVar RCV001934248
- ExAC rs756477001
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- REVEL 0.85
- CADD 33.00
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Variant of uncertain significance (in MCC2D)
- UniProt: Uncertain significance (in MCC2D)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available