P21L (p.Pro21Leu) variant of SMARCA2 (P51531)
P21L (p.Pro21Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 9-2029084-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.28
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.25
- CADD 17.80
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available