W658C (p.Trp658Cys) variant of RBM10 (RNA-binding protein 10)
W658C (p.Trp658Cys) in RBM10 (RNA-binding protein 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of TARP syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
W658C (p.Trp658Cys) variant details
- p.Trp658Cys
- rs2147209967
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10023
- Ensembl rs2147209967
- Likely pathogenic
- TARP syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (TARP syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available