L6F (p.Leu6Phe) variant of ERBB2 (P04626)
L6F (p.Leu6Phe) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- gnomAD 17-39700255-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available