P4S (p.Pro4Ser) variant of SMARCA2 (P51531)
P4S (p.Pro4Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- gnomAD 9-2029032-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.61
- AlphaMissense 0.45
- MetaLR 0.86
- MetaSVM 0.90
- CADD 25.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available