A14D (p.Ala14Asp) variant of ERBB2 (P04626)
A14D (p.Ala14Asp) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 17-39700279-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available