V64I (p.Val64Ile) variant of ETFB (P38117)
V64I (p.Val64Ile) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- rs989233154
- ClinGen CA309737889
- ClinVar RCV003067514
- ClinVar RCV004978541
- Uncertain significance
- Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.35
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Multiple acyl-CoA dehydrogenase deficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)