A6V (p.Ala6Val) variant of MCCC1 (Q96RQ3)
A6V (p.Ala6Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs2530560582
- ClinGen CA355324476
- ClinVar RCV002596711
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.24
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available