H24Q (p.His24Gln) variant of MCCC2 (Q9HCC0)
H24Q (p.His24Gln) 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 0.47 / 1. The record also includes population frequency data and structural context.
H24Q (p.His24Gln) variant details
- p.His24Gln
- rs374686220
- ClinGen CA360001963
- ClinVar RCV000625574
- ESP rs374686220
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.59
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available