A117D (p.Ala117Asp) variant of MCCC1 (Q96RQ3)
A117D (p.Ala117Asp) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
A117D (p.Ala117Asp) variant details
- p.Ala117Asp
- rs754963220
- ClinGen CA355319235
- ClinVar RCV000810735
- ExAC rs754963220
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.29
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.32
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available