E22D (p.Glu22Asp) variant of ETS1 (Protein C-ets-1)
E22D (p.Glu22Asp) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E22D (p.Glu22Asp) variant details
- p.Glu22Asp
- cosmic curated COSV60096
- ExAC rs765035333
- gnomAD rs765035333
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- MetaLR 0.08
- MetaSVM -1.02
- CADD 20.70
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.625