P17S (p.Pro17Ser) variant of SMARCA2 (P51531)
P17S (p.Pro17Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- TOPMed rs1818952140
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.53
- AlphaMissense 0.60
- MetaLR 0.77
- MetaSVM 0.60
- CADD 25.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available