E75K (p.Glu75Lys) variant of ETV4 (ETS translocation variant 4)
E75K (p.Glu75Lys) in ETV4 (ETS translocation variant 4) 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 0.51 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- rs1216469157
- ClinGen CA399720031
- cosmic curated COSV60044
- ClinVar RCV004133437
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.32
- CADD 25.50
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available