L6M (p.Leu6Met) variant of SMARCB1 (Q12824)
L6M (p.Leu6Met) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6M (p.Leu6Met) variant details
- p.Leu6Met
- gnomAD 22-23787185-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 23.80
- PolyPhen-2 0.85
- SIFT 0.02
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.346
- Literature evidence available