L6M (p.Leu6Met) variant of ERBB2 (P04626)
L6M (p.Leu6Met) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 17-39700254-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available