D21D (p.Asp21Asp) variant of SMARCB1 (Q12824)
D21D (p.Asp21Asp) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D21D (p.Asp21Asp) variant details
- p.Asp21Asp
- gnomAD 22-23787232-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 11.90
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.227
- Literature evidence available