V3L (p.Val3Leu) variant of ETFDH (Q16134)
V3L (p.Val3Leu) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- TOPMed rs1271777116
- gnomAD rs1271777116
- NCI-TCGA Cosmic COSV5701
- cosmic curated COSV57015
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.19
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00018)
- Structural context available