T12N (p.Thr12Asn) variant of ETS1 (Protein C-ets-1)
T12N (p.Thr12Asn) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T12N (p.Thr12Asn) variant details
- p.Thr12Asn
- cosmic curated COSV10740
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- MetaLR 0.25
- MetaSVM -0.80
- CADD 22.10
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.163