P20P (p.Pro20Pro) variant of ETV6 (Transcription factor ETV6)
P20P (p.Pro20Pro) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P20P (p.Pro20Pro) variant details
- p.Pro20Pro
- rs747866453
- gnomAD 12-11752476-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.45
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available