Q12K (p.Gln12Lys) variant of SMARCB1 (Q12824)
Q12K (p.Gln12Lys) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- gnomAD 22-23787203-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.646
- Literature evidence available