T156I (p.Thr156Ile) variant of ETFA (P13804)
T156I (p.Thr156Ile) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T156I (p.Thr156Ile) variant details
- p.Thr156Ile
- rs199597352
- ClinGen CA7673748
- ClinVar RCV001920158
- ClinVar RCV004975804
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)