A122T (p.Ala122Thr) variant of ETV5 (ETS translocation variant 5)
A122T (p.Ala122Thr) in ETV5 (ETS translocation variant 5) 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 0.42 / 1. The record also includes population frequency data.
A122T (p.Ala122Thr) variant details
- p.Ala122Thr
- TOPMed rs1332934017
- gnomAD rs1332934017
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.16
- CADD 28.30
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)