P20L (p.Pro20Leu) variant of ETV6 (Transcription factor ETV6)
P20L (p.Pro20Leu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 12-11752475-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.15
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available