S35P (p.Ser35Pro) variant of ETFDH (Q16134)
S35P (p.Ser35Pro) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S35P (p.Ser35Pro) variant details
- p.Ser35Pro
- gnomAD rs1423884513
- Likely pathogenic
- Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.68
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.07
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defic)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available