P46L (p.Pro46Leu) variant of SMARCA2 (P51531)
P46L (p.Pro46Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- ExAC rs765745579
- gnomAD rs765745579
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.63
- AlphaMissense 0.76
- MetaLR 0.79
- MetaSVM 0.68
- CADD 27.60
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available