Q18R (p.Gln18Arg) variant of SMARCB1 (Q12824)
Q18R (p.Gln18Arg) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- gnomAD 22-23787222-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.09
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.062
- Literature evidence available