Y27N (p.Tyr27Asn) variant of ETV6 (Transcription factor ETV6)
Y27N (p.Tyr27Asn) in ETV6 (Transcription factor ETV6) is a missense change. 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.
Y27N (p.Tyr27Asn) variant details
- p.Tyr27Asn
- gnomAD 12-11752495-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available