R163W (p.Arg163Trp) variant of RBM10 (RNA-binding protein 10)
R163W (p.Arg163Trp) in RBM10 (RNA-binding protein 10) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of TARP syndrome. The record also includes structural context.
R163W (p.Arg163Trp) variant details
- p.Arg163Trp
- cosmic curated COSV10965
- Ensembl rs2147142855
- Likely pathogenic
- TARP syndrome
- Missense
- ClinVar: Likely pathogenic (TARP syndrome)
- UniProt: Likely pathogenic
- Structural context available