W61C (p.Trp61Cys) variant of ETV6 (Transcription factor ETV6)
W61C (p.Trp61Cys) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W61C (p.Trp61Cys) variant details
- p.Trp61Cys
- gnomAD 12-11839159-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.86
- MetaLR 0.87
- MetaSVM 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available