C7F (p.Cys7Phe) variant of ERBB2 (P04626)
C7F (p.Cys7Phe) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C7F (p.Cys7Phe) variant details
- p.Cys7Phe
- gnomAD 17-39700258-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.25
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available