R766C (p.Arg766Cys) variant of RBM10 (RNA-binding protein 10)
R766C (p.Arg766Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
R766C (p.Arg766Cys) variant details
- p.Arg766Cys
- rs1935843757
- ClinGen CA412807826
- NCI-TCGA Cosmic COSV6130
- cosmic curated COSV61307
- Likely pathogenic
- TARP syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (TARP syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available