T3K (p.Thr3Lys) variant of SMARCA2 (P51531)
T3K (p.Thr3Lys) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T3K (p.Thr3Lys) variant details
- p.Thr3Lys
- gnomAD 9-2029030-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.58
- AlphaMissense 0.85
- MetaLR 0.81
- MetaSVM 0.77
- CADD 26.00
- PolyPhen-2 1.00
- Population evidence available
- Structural context available
- Literature evidence available