V339M (p.Val339Met) variant of MCCC2 (Q9HCC0)
V339M (p.Val339Met) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Methylcrotonyl-CoA carboxylase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
V339M (p.Val339Met) variant details
- p.Val339Met
- rs150591260
- ClinGen CA312688
- cosmic curated COSV10811
- ClinVar RCV000186002
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Methylcrotonyl-CoA carboxylase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Methylcrotonyl-CoA carbox)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.048)
- Structural context available
- Cited in: The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID 11181649)
- Cited in: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase… (PMID 22264772)