A28D (p.Ala28Asp) variant of ETV6 (Transcription factor ETV6)
A28D (p.Ala28Asp) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A28D (p.Ala28Asp) variant details
- p.Ala28Asp
- ExAC rs763230765
- gnomAD rs763230765
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.04
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available