A12P (p.Ala12Pro) variant of ETFDH (Q16134)
A12P (p.Ala12Pro) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- rs1172887273
- ClinGen CA358573042
- ClinVar RCV000699613
- ClinVar RCV001577644
- Pathogenic/Likely pathogenic
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.52
- CADD 34.00
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)