E17K (p.Glu17Lys) variant of ETS1 (Protein C-ets-1)
E17K (p.Glu17Lys) 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.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- cosmic curated COSV60099
- 1000Genomes rs200525200
- ExAC rs200525200
- gnomAD rs200525200
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- MetaLR 0.18
- MetaSVM -0.87
- CADD 22.20
- SIFT 0.08
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.154