P92S (p.Pro92Ser) variant of ETFB (P38117)
P92S (p.Pro92Ser) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia IIc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P92S (p.Pro92Ser) variant details
- p.Pro92Ser
- rs758509148
- ClinGen CA9610806
- ClinVar RCV001332069
- ClinVar RCV004035727
- Conflicting interpretations
- not specified; Multiple acyl-CoA dehydrogenase deficiency; Glutaric acidemia IIc
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.12
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (not specified; Multiple acyl-CoA dehydrogenase deficiency; Gluta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)