G195A (p.Gly195Ala) variant of ACADM (P11310)
G195A (p.Gly195Ala) in ACADM (P11310) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Medium-chain acyl-coenzyme A dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G195A (p.Gly195Ala) variant details
- p.Gly195Ala
- ExAC rs754219595
- gnomAD rs754219595
- Uncertain significance
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.85
- CADD 24.70
- PolyPhen-2 0.46
- SIFT 0.29
- ClinVar: Uncertain significance (Medium-chain acyl-coenzyme A dehydrogenase deficiency)
- UniProt: Uncertain significance (in ACADMD)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available