A4E (p.Ala4Glu) variant of ERBB2 (P04626)
A4E (p.Ala4Glu) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- gnomAD 17-39700249-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.31
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available