A44V (p.Ala44Val) variant of MCCC1 (Q96RQ3)
A44V (p.Ala44Val) 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; Inborn genetic diseases; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- 1000Genomes rs200673204
- ExAC rs200673204
- TOPMed rs200673204
- gnomAD rs200673204
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic diseases; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.24
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.071)
- Structural context available