p.Met4dup variant of SMARCB1 (Q12824)
For p.Met4dup in SMARCB1 (Q12824), CATVariant brings together the available evidence for this variant. 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.
p.Met4dup variant details
- gnomAD 22-23787169-A-AAT
- 5 Prime Utr Variant
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 20.50
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.599
- Literature evidence available