C18Y (p.Cys18Tyr) variant of RAC1 (P63000)
C18Y (p.Cys18Tyr) in RAC1 (P63000) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- rs1554263326
- ClinGen CA366759929
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6182
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in MRD48)
- UniProt: Pathogenic (in MRD48)
- Structural context available
- Cited in: RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. (PMID 28886345)