E21D (p.Glu21Asp) variant of ETV6 (Transcription factor ETV6)
E21D (p.Glu21Asp) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- gnomAD 12-11752479-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.04
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available