L6Q (p.Leu6Gln) variant of SMARCB1 (Q12824)
L6Q (p.Leu6Gln) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD 22-23787186-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- CADD 31.00
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.346
- Literature evidence available