A28V (p.Ala28Val) variant of ETV6 (Transcription factor ETV6)
A28V (p.Ala28Val) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD 12-11752499-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.05
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available