L11I (p.Leu11Ile) variant of ERBB2 (P04626)
L11I (p.Leu11Ile) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L11I (p.Leu11Ile) variant details
- p.Leu11Ile
- gnomAD 17-39700269-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.16
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Ashkenazi Jewish population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available