K116Q (p.Lys116Gln) variant of ETV1 (ETS translocation variant 1)
K116Q (p.Lys116Gln) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K116Q (p.Lys116Gln) variant details
- p.Lys116Gln
- Ensembl rs1787169348
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.16
- CADD 22.10
- PolyPhen-2 0.39
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available