E374* (p.Glu374Ter) variant of RPGR (Q92834)
E374* (p.Glu374Ter) in RPGR (Q92834) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
E374* (p.Glu374Ter) variant details
- p.Glu374Ter
- rs62635001
- ClinGen CA226344
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.13
- MetaLR 0.12
- MetaSVM -1.01
- PolyPhen-2 0.10
- SIFT 0.03
- EVE 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)