A13V (p.Ala13Val) variant of MCCC1 (Q96RQ3)
A13V (p.Ala13Val) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs757154849
- TOPMed rs757154849
- gnomAD rs757154849
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.39
- CADD 18.00
- PolyPhen-2 0.23
- SIFT 0.18
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available