P19L (p.Pro19Leu) variant of SMARCA2 (P51531)
P19L (p.Pro19Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD 9-2029078-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.46
- AlphaMissense 0.28
- MetaLR 0.61
- MetaSVM 0.13
- CADD 22.70
- PolyPhen-2 0.25
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available