A45V (p.Ala45Val) variant of ETFB (P38117)
A45V (p.Ala45Val) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs770414295
- ClinGen CA9610855
- NCI-TCGA Cosmic COSV5853
- cosmic curated COSV58537
- Uncertain significance
- not specified; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.94
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)