G86A (p.Gly86Ala) variant of ETFB (P38117)
G86A (p.Gly86Ala) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G86A (p.Gly86Ala) variant details
- p.Gly86Ala
- rs143568332
- ClinGen CA312510
- ClinVar RCV001985428
- ESP rs143568332
- Likely benign
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.60
- AlphaMissense 0.37
- MetaLR 0.34
- MetaSVM -0.43
- CADD 21.60
- PolyPhen-2 0.66
- ClinVar: Likely benign (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)