E20D (p.Glu20Asp) variant of SMARCB1 (Q12824)
E20D (p.Glu20Asp) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 22-23787229-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.169
- Literature evidence available