S30S (p.Ser30Ser) variant of SMARCB1 (Q12824)
S30S (p.Ser30Ser) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs761868468
- gnomAD 22-23787259-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 12.80
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0233
- Literature evidence available