G215V (p.Gly215Val) variant of RPGR (Q92834)
G215V (p.Gly215Val) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G215V (p.Gly215Val) variant details
- p.Gly215Val
- rs62650218
- ClinGen CA226433
- ClinVar RCV000085115
- ClinVar RCV004815044
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a… (PMID 12657579)
- Cited in: A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa… (PMID 8673101)