R37L (p.Arg37Leu) variant of SMARCB1 (Q12824)
R37L (p.Arg37Leu) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes experimental measurements and structural context.
R37L (p.Arg37Leu) variant details
- p.Arg37Leu
- rs398122368
- ClinGen CA410932443
- ClinVar RCV003764453
- Ensembl rs398122368
- Uncertain significance
- Developmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.59
- ClinVar: Uncertain significance (Developmental disorder)
- EBI: Pathogenic (in CSS3)
- UniProt: Pathogenic (in CSS3)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.099