K6I (p.Lys6Ile) variant of ETV4 (ETS translocation variant 4)
K6I (p.Lys6Ile) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
K6I (p.Lys6Ile) variant details
- p.Lys6Ile
- TOPMed rs1463695224
- gnomAD rs1463695224
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 25.60
- PolyPhen-2 0.34
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)