E17Q (p.Glu17Gln) variant of ETS1 (Protein C-ets-1)
E17Q (p.Glu17Gln) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E17Q (p.Glu17Gln) variant details
- p.Glu17Gln
- cosmic curated COSV60097
- 1000Genomes rs200525200
- ExAC rs200525200
- gnomAD rs200525200
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- MetaLR 0.19
- MetaSVM -0.88
- CADD 22.10
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.154