H81P (p.His81Pro) variant of ETFA (P13804)
H81P (p.His81Pro) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
H81P (p.His81Pro) variant details
- p.His81Pro
- rs972293793
- ClinGen CA273699474
- ClinVar RCV003140452
- TOPMed rs972293793
- Conflicting interpretations
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)