E31G (p.Glu31Gly) variant of SMARCB1 (Q12824)
E31G (p.Glu31Gly) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements and structural context.
E31G (p.Glu31Gly) variant details
- p.Glu31Gly
- rs267607072
- ClinGen CA410931038
- ClinVar RCV003572363
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.58
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.533