R70W (p.Arg70Trp) variant of ETS1 (Protein C-ets-1)
R70W (p.Arg70Trp) in ETS1 (Protein C-ets-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- rs375860265
- NCI-TCGA Cosmic COSV1000
- ESP rs375860265
- TOPMed rs375860265
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.13
- MetaLR 0.12
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- ETS1 Pointed domain domainome 1.0: score -0.146