R99H (p.Arg99His) variant of ETFDH (Q16134)
R99H (p.Arg99His) 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; not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R99H (p.Arg99His) variant details
- p.Arg99His
- rs376630579
- ClinGen CA3122316
- cosmic curated COSV10966
- ClinVar RCV001378006
- Conflicting interpretations
- not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.79
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Multiple acyl-CoA dehydrogenase def)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)