L54V (p.Leu54Val) variant of ETV6 (Transcription factor ETV6)
L54V (p.Leu54Val) 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.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- gnomAD 12-11752576-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.87
- CADD 27.10
- PolyPhen-2 0.58
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available