A112S (p.Ala112Ser) variant of ETFA (P13804)
A112S (p.Ala112Ser) in ETFA (P13804) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A112S (p.Ala112Ser) variant details
- p.Ala112Ser
- rs766127651
- ClinGen CA7673795
- ClinVar RCV002794825
- ClinVar RCV005834317
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- ESM-1b 0.21
- AlphaMissense 0.08
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.14
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)