L41F (p.Leu41Phe) variant of ETV6 (Transcription factor ETV6)
L41F (p.Leu41Phe) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- gnomAD 12-11752537-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.12
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.68
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available