I148V (p.Ile148Val) variant of ETFA (P13804)
I148V (p.Ile148Val) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I148V (p.Ile148Val) variant details
- p.Ile148Val
- rs199673198
- ClinGen CA7673764
- ClinVar RCV000224700
- ClinVar RCV001081384
- Conflicting interpretations
- not provided; not specified; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Multiple acyl-CoA dehydrogenase def)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)