V481L (p.Val481Leu) variant of MCCC2 (Q9HCC0)
V481L (p.Val481Leu) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
V481L (p.Val481Leu) variant details
- p.Val481Leu
- rs767575019
- ClinGen CA359999137
- ClinVar RCV002880554
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.84
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available