S207L (p.Ser207Leu) variant of ETS1 (Protein C-ets-1)
S207L (p.Ser207Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
S207L (p.Ser207Leu) variant details
- p.Ser207Leu
- rs1045241125
- ClinGen CA230927536
- NCI-TCGA Cosmic COSV6009
- cosmic curated COSV60091
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available