P137L (p.Pro137Leu) variant of ETFDH (Q16134)
P137L (p.Pro137Leu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P137L (p.Pro137Leu) variant details
- p.Pro137Leu
- rs1019854055
- ClinGen CA108850100
- ClinVar RCV002283773
- gnomAD rs1019854055
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.91
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)