C8F (p.Cys8Phe) variant of ETV6 (Transcription factor ETV6)
C8F (p.Cys8Phe) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C8F (p.Cys8Phe) variant details
- p.Cys8Phe
- rs921592943
- ClinGen CA232479199
- ClinVar RCV002912129
- ClinVar RCV004725613
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.06
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)