P51S (p.Pro51Ser) variant of ETV6 (Transcription factor ETV6)
P51S (p.Pro51Ser) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- gnomAD 12-11752567-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.33
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available