K11E (p.Lys11Glu) variant of ETV6 (Transcription factor ETV6)
K11E (p.Lys11Glu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K11E (p.Lys11Glu) variant details
- p.Lys11Glu
- Ensembl rs932279404
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available