Q135K (p.Gln135Lys) variant of ETV4 (ETS translocation variant 4)
Q135K (p.Gln135Lys) 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.
Q135K (p.Gln135Lys) variant details
- p.Gln135Lys
- gnomAD rs1429673426
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)