V37E (p.Val37Glu) variant of ETV6 (Transcription factor ETV6)
V37E (p.Val37Glu) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V37E (p.Val37Glu) variant details
- p.Val37Glu
- gnomAD 12-11752526-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available