G72A (p.Gly72Ala) variant of MCCC1 (Q96RQ3)
G72A (p.Gly72Ala) 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 0.79 / 1. The record also includes population frequency data and structural context.
G72A (p.Gly72Ala) variant details
- p.Gly72Ala
- rs761521333
- ClinGen CA2719165
- ClinVar RCV001922865
- ExAC rs761521333
- Uncertain significance
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.93
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available