P27S (p.Pro27Ser) variant of ETS1 (Protein C-ets-1)
P27S (p.Pro27Ser) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- cosmic curated COSV10590
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.04
- CADD 12.80
- PolyPhen-2 0.02
- SIFT 0.36
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.992