P50L (p.Pro50Leu) variant of SMARCA2 (P51531)
P50L (p.Pro50Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- gnomAD 9-2029171-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.56
- AlphaMissense 0.30
- MetaLR 0.84
- MetaSVM 0.83
- CADD 26.70
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available