L11A (p.Leu11Ala) variant of ERBB2 (P04626)
L11A (p.Leu11Ala) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L11A (p.Leu11Ala) variant details
- p.Leu11Ala
- rs1345424209
- gnomAD 17-39700263-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.63
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available