V373A (p.Val373Ala) variant of ACADM (P11310)
V373A (p.Val373Ala) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Medium-chain acyl-coenzyme A dehydrogenase deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V373A (p.Val373Ala) variant details
- p.Val373Ala
- rs373057729
- ClinGen CA913277
- ClinVar RCV001563236
- ClinVar RCV002290723
- Conflicting interpretations
- not provided; not specified; Medium-chain acyl-coenzyme A dehydrogenase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.97
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Medium-chain acyl-coenzyme A dehydr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (PMID 20301597)