S173L (p.Ser173Leu) variant of ETS1 (Protein C-ets-1)
S173L (p.Ser173Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
S173L (p.Ser173Leu) variant details
- p.Ser173Leu
- rs766647712
- ClinGen CA6356606
- NCI-TCGA Cosmic COSV6009
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.90
- MetaLR 0.31
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.36
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available