N30D (p.Asn30Asp) variant of ETFA (P13804)
N30D (p.Asn30Asp) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- rs2039810890
- ClinGen CA393517978
- ClinVar RCV001978524
- Ensembl rs2039810890
- Uncertain significance
- not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.28
- ESM-1b 0.76
- AlphaMissense 0.10
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)