T103I (p.Thr103Ile) variant of RPGR (Q92834)
T103I (p.Thr103Ile) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
T103I (p.Thr103Ile) variant details
- p.Thr103Ile
- rs2147285611
- ClinGen CA412745351
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58833
- Likely pathogenic
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.78
- MetaLR 0.84
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (RPGR-related retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)