Y17C (p.Tyr17Cys) variant of ETV6 (Transcription factor ETV6)
Y17C (p.Tyr17Cys) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 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 and structural context.
Y17C (p.Tyr17Cys) variant details
- p.Tyr17Cys
- Ensembl rs2121067376
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- CADD 24.30
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available