A101V (p.Ala101Val) variant of MCCC1 (Q96RQ3)
A101V (p.Ala101Val) 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 0.70 / 1. The record also includes population frequency data and structural context.
A101V (p.Ala101Val) variant details
- p.Ala101Val
- rs772547872
- ClinGen CA2719112
- ClinVar RCV001996852
- ExAC rs772547872
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.72
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available