P227T (p.Pro227Thr) variant of ETFDH (Q16134)
P227T (p.Pro227Thr) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P227T (p.Pro227Thr) variant details
- p.Pro227Thr
- rs141407224
- ClinGen CA3122427
- ClinVar RCV000558221
- ClinVar RCV004808752
- Pathogenic/Likely pathogenic
- Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehydrogenase deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.75
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glutaric acidemia type 2C; not provided; Multiple acyl-CoA dehyd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)