Y67H (p.Tyr67His) variant of ACADM (P11310)
Y67H (p.Tyr67His) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Medium-chain acyl-coenzyme A dehydrogenas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Y67H (p.Tyr67His) variant details
- p.Tyr67His
- rs121434280
- ClinGen CA252836
- ClinVar RCV000003780
- ClinVar RCV000185668
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Medium-chain acyl-coenzyme A dehydrogenas
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.56
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Medium-chain acyl-coenzym)
- EBI: Pathogenic (in ACADMD)
- UniProt: Pathogenic (in ACADMD)
- Most common in the Amish population (allele frequency 0.037)
- Structural context available
- Cited in: Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ… (PMID 11349232)
- Cited in: Molecular and functional characterisation of mild MCAD deficiency. (PMID 11409868)