Y60H (p.Tyr60His) variant of ETV6 (Transcription factor ETV6)
Y60H (p.Tyr60His) in ETV6 (Transcription factor ETV6) is a missense change. 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.
Y60H (p.Tyr60His) variant details
- p.Tyr60His
- gnomAD 12-11839154-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.04
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available