V37G (p.Val37Gly) variant of ETV6 (Transcription factor ETV6)
V37G (p.Val37Gly) 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.
V37G (p.Val37Gly) variant details
- p.Val37Gly
- gnomAD 12-11752526-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available