P51A (p.Pro51Ala) variant of ETV6 (Transcription factor ETV6)
P51A (p.Pro51Ala) 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.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- gnomAD 12-11752567-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.32
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available