G28S (p.Gly28Ser) variant of ERBB2 (P04626)
G28S (p.Gly28Ser) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- 1000Genomes rs564064363
- ExAC rs564064363
- TOPMed rs564064363
- gnomAD rs564064363
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available