R377G (p.Arg377Gly) variant of SMARCB1 (Q12824)
R377G (p.Arg377Gly) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of NK-cell enteropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
R377G (p.Arg377Gly) variant details
- p.Arg377Gly
- rs1601446826
- ClinGen CA410914598
- ClinVar RCV000791312
- Ensembl rs1601446826
- Likely pathogenic
- NK-cell enteropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (NK-cell enteropathy)
- EBI: Likely pathogenic (in CSS3)
- UniProt: Likely pathogenic (in CSS3)
- Structural context available