A218V (p.Ala218Val) variant of MCCC2 (Q9HCC0)
A218V (p.Ala218Val) in MCCC2 (Q9HCC0) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A218V (p.Ala218Val) variant details
- p.Ala218Val
- rs760420191
- ClinGen CA3297837
- ClinVar RCV000697287
- ClinVar RCV001574319
- Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.96
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; not provided; 3-methy)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the South Asian population (allele frequency 0.00027)
- Structural context available
- Cited in: Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 17968484)
- Cited in: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase… (PMID 22264772)