L13H (p.Leu13His) variant of ERBB2 (P04626)
L13H (p.Leu13His) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L13H (p.Leu13His) variant details
- p.Leu13His
- Ensembl rs2145268694
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.49
- CADD 24.10
- PolyPhen-2 0.45
- SIFT 0.06
- Population evidence available
- Structural context available