C42W (p.Cys42Trp) variant of RPGR (Q92834)
C42W (p.Cys42Trp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
C42W (p.Cys42Trp) variant details
- p.Cys42Trp
- rs1555968526
- ClinGen CA412745785
- cosmic curated COSV10882
- ClinVar RCV000504753
- Uncertain significance
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 0.97
- MetaLR 0.70
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (RPGR-related retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)