A213T (p.Ala213Thr) variant of ACADVL (P49748)
A213T (p.Ala213Thr) in ACADVL (P49748) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Very long chain acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A213T (p.Ala213Thr) variant details
- p.Ala213Thr
- rs140629318
- ClinGen CA275413
- NCI-TCGA Cosmic COSV5003
- cosmic curated COSV50039
- Likely pathogenic
- Very long chain acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.92
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Very long chain acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic (in ACADVLD)
- UniProt: Pathogenic (in ACADVLD)
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)