E21K (p.Glu21Lys) variant of ETV6 (Transcription factor ETV6)
E21K (p.Glu21Lys) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- gnomAD 12-11752477-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available