A524P (p.Ala524Pro) variant of MCCC2 (Q9HCC0)
A524P (p.Ala524Pro) 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 0.92 / 1. The record also includes structural context.
A524P (p.Ala524Pro) variant details
- p.Ala524Pro
- rs774241918
- ClinGen CA360002012
- ClinVar RCV001940016
- ExAC rs774241918
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 2 deficiency)
- EBI: Variant of uncertain significance (in MCC2D)
- UniProt: Uncertain significance (in MCC2D)
- Structural context available