T31A (p.Thr31Ala) variant of ETFDH (Q16134)
T31A (p.Thr31Ala) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficien. 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.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs182144074
- ClinGen CA312521
- ClinVar RCV000185888
- ClinVar RCV000297924
- Conflicting interpretations
- not specified; Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.24
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; Multiple acyl-CoA dehydr)
- EBI: Likely benign (in dbSNP:rs11559290)
- UniProt: Likely benign (in dbSNP:rs11559290)
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- 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)