T17N (p.Thr17Asn) variant of ETV4 (ETS translocation variant 4)
T17N (p.Thr17Asn) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
T17N (p.Thr17Asn) variant details
- p.Thr17Asn
- 1000Genomes rs773308888
- ExAC rs773308888
- TOPMed rs773308888
- gnomAD rs773308888
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)