P40T (p.Pro40Thr) variant of ETFB (P38117)
P40T (p.Pro40Thr) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- rs772322071
- ClinGen CA9610861
- ClinVar RCV001244954
- ClinVar RCV003166537
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.88
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)