L11S (p.Leu11Ser) variant of ERBB2 (P04626)
L11S (p.Leu11Ser) in ERBB2 (P04626) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L11S (p.Leu11Ser) variant details
- p.Leu11Ser
- rs1345424209
- gnomAD 17-39700263-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 27.90
- Most common in the Middle Eastern population (allele frequency 0.00026)
- Structural context available
- Literature evidence available