L127P (p.Leu127Pro) variant of ETFDH (Q16134)
L127P (p.Leu127Pro) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L127P (p.Leu127Pro) variant details
- p.Leu127Pro
- rs121964956
- ClinGen CA312523
- ClinVar RCV000185889
- ClinVar RCV005089931
- Likely pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic (in GA2C)
- UniProt: Pathogenic (in GA2C)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)