R55S (p.Arg55Ser) variant of ETV6 (Transcription factor ETV6)
R55S (p.Arg55Ser) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R55S (p.Arg55Ser) variant details
- p.Arg55Ser
- gnomAD 12-11752579-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -1.06
- CADD 25.00
- PolyPhen-2 0.81
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available