L12I (p.Leu12Ile) variant of ERBB2 (P04626)
L12I (p.Leu12Ile) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD rs1318994039
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.03
- Population evidence available
- Structural context available