P534L (p.Pro534Leu) variant of ETFDH (Q16134)
P534L (p.Pro534Leu) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P534L (p.Pro534Leu) variant details
- p.Pro534Leu
- rs200920510
- ClinGen CA3122669
- cosmic curated COSV56988
- ClinVar RCV000483304
- Pathogenic/Likely pathogenic
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.96
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:TSI population (allele frequency 0.0097)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)