P7T (p.Pro7Thr) variant of SMARCA2 (P51531)
P7T (p.Pro7Thr) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 9-2029041-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- AlphaMissense 0.08
- MetaLR 0.62
- MetaSVM -0.01
- CADD 21.60
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available