A107T (p.Ala107Thr) variant of ETV5 (ETS translocation variant 5)
A107T (p.Ala107Thr) in ETV5 (ETS translocation variant 5) 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 0.25 / 1. The record also includes population frequency data.
A107T (p.Ala107Thr) variant details
- p.Ala107Thr
- cosmic curated COSV60501
- ExAC rs745776119
- TOPMed rs745776119
- gnomAD rs745776119
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.04
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)