V481M (p.Val481Met) variant of MCCC2 (Q9HCC0)
V481M (p.Val481Met) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
V481M (p.Val481Met) variant details
- p.Val481Met
- rs767575019
- ClinGen CA240593
- ClinVar RCV000174945
- ClinVar RCV000554324
- Conflicting interpretations
- not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.93
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.06
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Methylcrotonyl-CoA carboxylase deficiency; 3-methy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available