A45T (p.Ala45Thr) variant of ETFB (P38117)
A45T (p.Ala45Thr) in ETFB (P38117) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs151108898
- ClinGen CA9610856
- ClinVar RCV002017443
- ESP rs151108898
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.87
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)