Q62E (p.Gln62Glu) variant of ETV1 (ETS translocation variant 1)
Q62E (p.Gln62Glu) in ETV1 (ETS translocation variant 1) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
Q62E (p.Gln62Glu) variant details
- p.Gln62Glu
- ExAC rs376325638
- gnomAD rs376325638
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.27
- CADD 25.00
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available