P227S (p.Pro227Ser) variant of ETFDH (Q16134)
P227S (p.Pro227Ser) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P227S (p.Pro227Ser) variant details
- p.Pro227Ser
- rs141407224
- ClinGen CA108807371
- ClinVar RCV004527226
- ClinVar RCV004750476
- Conflicting interpretations
- not specified; Glutaric acidemia type 2C; Multiple acyl-CoA dehydrogenase defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.78
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Glutaric acidemia type 2C; Multiple acyl-CoA dehy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)