T31A (p.Thr31Ala) variant of ETV6 (Transcription factor ETV6)
T31A (p.Thr31Ala) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- gnomAD 12-11752507-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.06
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available