S30P (p.Ser30Pro) variant of ETV6 (Transcription factor ETV6)
S30P (p.Ser30Pro) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- gnomAD 12-11752504-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.10
- CADD 24.10
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available