Q18H (p.Gln18His) variant of SMARCB1 (Q12824)
Q18H (p.Gln18His) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes experimental measurements and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs1220062951
- ClinGen CA410930745
- ClinVar RCV002020668
- gnomAD rs1220062951
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.79
- MetaLR 0.69
- MetaSVM 0.28
- PolyPhen-2 0.12
- SIFT 0.03
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.062