Y17H (p.Tyr17His) variant of ETV6 (Transcription factor ETV6)
Y17H (p.Tyr17His) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y17H (p.Tyr17His) variant details
- p.Tyr17His
- rs746119985
- ClinGen CA232546442
- ClinVar RCV003877686
- ClinVar RCV005325876
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.75
- MetaLR 0.02
- MetaSVM -0.90
- PolyPhen-2 0.89
- SIFT 0.01
- MutPred 0.25
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)