R37R (p.Arg37Arg) variant of SMARCB1 (Q12824)
R37R (p.Arg37Arg) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R37R (p.Arg37Arg) variant details
- p.Arg37Arg
- rs939582770
- gnomAD 22-23791773-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.099
- Literature evidence available