P25L (p.Pro25Leu) variant of SMARCA2 (P51531)
P25L (p.Pro25Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- gnomAD 9-2029096-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.43
- AlphaMissense 0.56
- MetaLR 0.53
- MetaSVM 0.13
- CADD 23.40
- PolyPhen-2 0.73
- Population evidence available
- Structural context available
- Literature evidence available