P17Q (p.Pro17Gln) variant of SMARCA2 (P51531)
P17Q (p.Pro17Gln) in SMARCA2 (P51531) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- 1000Genomes rs543241889
- ExAC rs543241889
- TOPMed rs543241889
- gnomAD rs543241889
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.46
- AlphaMissense 0.69
- MetaLR 0.78
- MetaSVM 0.64
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available