L3M (p.Leu3Met) variant of ERBB2 (P04626)
L3M (p.Leu3Met) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L3M (p.Leu3Met) variant details
- p.Leu3Met
- gnomAD 17-39700245-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.35
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available