T31I (p.Thr31Ile) variant of ETFDH (Q16134)
T31I (p.Thr31Ile) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- rs11559290
- ClinGen CA148156
- ClinVar RCV000081080
- ClinVar RCV000355141
- Benign
- not specified; not provided; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.35
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Benign (not specified; not provided; Multiple acyl-CoA dehydrogenase def)
- EBI: Benign (in dbSNP:rs11559290)
- UniProt: Benign (in dbSNP:rs11559290)
- Most common in the HGDP:UYGUR population (allele frequency 1)
- Structural context available
- Cited in: Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase… (PMID 12359134)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)