T29K (p.Thr29Lys) variant of ERBB2 (P04626)
T29K (p.Thr29Lys) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T29K (p.Thr29Lys) variant details
- p.Thr29Lys
- gnomAD 17-39707002-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available