R8L (p.Arg8Leu) variant of ERBB2 (P04626)
R8L (p.Arg8Leu) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 17-39700261-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available