G29R (p.Gly29Arg) variant of SMARCB1 (Q12824)
G29R (p.Gly29Arg) 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 0.90 / 1. The record also includes experimental measurements and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- rs774011967
- ClinGen CA410930996
- ClinVar RCV001219480
- ExAC rs774011967
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0668