P93L (p.Pro93Leu) variant of ETFB (P38117)
P93L (p.Pro93Leu) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Multiple acyl-CoA dehydrogenase deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P93L (p.Pro93Leu) variant details
- p.Pro93Leu
- rs139519507
- ClinGen CA312492
- ClinVar RCV000415826
- ClinVar RCV000814061
- Conflicting interpretations
- Inborn genetic diseases; not provided; Multiple acyl-CoA dehydrogenase deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Multiple acyl-CoA dehydro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)