S9T (p.Ser9Thr) variant of ETFDH (Q16134)
S9T (p.Ser9Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S9T (p.Ser9Thr) variant details
- p.Ser9Thr
- rs1175266968
- ClinGen CA358573023
- ClinVar RCV001279046
- ClinVar RCV004774375
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.21
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)