G23R (p.Gly23Arg) variant of SMARCB1 (Q12824)
G23R (p.Gly23Arg) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- TOPMed rs1287987691
- gnomAD rs1287987691
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.147