T17I (p.Thr17Ile) variant of ETV4 (ETS translocation variant 4)
T17I (p.Thr17Ile) in ETV4 (ETS translocation variant 4) 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.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs773308888
- ClinGen CA8592497
- ClinVar RCV004383172
- 1000Genomes rs773308888
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)