P31L (p.Pro31Leu) variant of SMARCA2 (P51531)
P31L (p.Pro31Leu) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD rs868162385
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.49
- AlphaMissense 0.53
- MetaLR 0.79
- MetaSVM 0.67
- CADD 25.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available