P36L (p.Pro36Leu) variant of ETV6 (Transcription factor ETV6)
P36L (p.Pro36Leu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD rs1866053075
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available