L27P (p.Leu27Pro) variant of SMARCA2 (P51531)
L27P (p.Leu27Pro) 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.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 9-2029102-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.46
- AlphaMissense 0.58
- MetaLR 0.72
- MetaSVM 0.49
- CADD 25.70
- PolyPhen-2 0.97
- Population evidence available
- Structural context available
- Literature evidence available