E30V (p.Glu30Val) variant of ETV4 (ETS translocation variant 4)
E30V (p.Glu30Val) in ETV4 (ETS translocation variant 4) 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 0.29 / 1. The record also includes population frequency data.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- TOPMed rs1049573421
- gnomAD rs1049573421
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.12
- CADD 25.00
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)