P51H (p.Pro51His) variant of ETV6 (Transcription factor ETV6)
P51H (p.Pro51His) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P51H (p.Pro51His) variant details
- p.Pro51His
- gnomAD 12-11752568-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.39
- MetaLR 0.26
- MetaSVM -0.52
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available