R39Q (p.Arg39Gln) variant of ETV6 (Transcription factor ETV6)
R39Q (p.Arg39Gln) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Thrombocytopenia 5; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R39Q (p.Arg39Gln) variant details
- p.Arg39Gln
- rs144209028
- ClinGen CA6454118
- ClinVar RCV002272847
- ClinVar RCV003101544
- Conflicting interpretations
- Thrombocytopenia 5; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Thrombocytopenia 5; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8.9e-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)