P19S (p.Pro19Ser) variant of SMARCA2 (P51531)
P19S (p.Pro19Ser) in SMARCA2 (P51531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- ExAC rs777207780
- gnomAD rs777207780
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.34
- AlphaMissense 0.23
- MetaLR 0.61
- MetaSVM 0.05
- CADD 21.40
- PolyPhen-2 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available