E24D (p.Glu24Asp) variant of ETV1 (ETS translocation variant 1)
E24D (p.Glu24Asp) in ETV1 (ETS translocation variant 1) 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 0.34 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- NCI-TCGA Cosmic COSV5414
- cosmic curated COSV54141
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.13
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.51
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available