P19S (p.Pro19Ser) variant of ETV6 (Transcription factor ETV6)
P19S (p.Pro19Ser) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs2121067453
- ClinGen CA384041491
- NCI-TCGA Cosmic COSV1011
- ClinVar RCV003712664
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.54
- MetaLR 0.06
- MetaSVM -1.14
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available