F81L (p.Phe81Leu) variant of ETV1 (ETS translocation variant 1)
F81L (p.Phe81Leu) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
F81L (p.Phe81Leu) variant details
- p.Phe81Leu
- ExAC rs749235215
- gnomAD rs749235215
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available