P612S (p.Pro612Ser) variant of ETFDH (Q16134)
P612S (p.Pro612Ser) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
P612S (p.Pro612Ser) variant details
- p.Pro612Ser
- rs1774704452
- ClinGen CA358566956
- ClinVar RCV002843226
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.96
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)