E30K (p.Glu30Lys) variant of ETV4 (ETS translocation variant 4)
E30K (p.Glu30Lys) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs776306922
- NCI-TCGA Cosmic COSV1000
- NCI-TCGA Cosmic COSV6004
- cosmic curated COSV60043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.71
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)