R14Q (p.Arg14Gln) variant of ETV6 (Transcription factor ETV6)
R14Q (p.Arg14Gln) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs781494988
- ClinGen CA6454096
- NCI-TCGA Cosmic COSV6714
- ClinVar RCV003333872
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAZARA population (allele frequency 0.033)
- 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)