I289V (p.Ile289Val) variant of RPGR (Q92834)
I289V (p.Ile289Val) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I289V (p.Ile289Val) variant details
- p.Ile289Val
- rs62640587
- ClinGen CA226452
- ClinVar RCV000085129
- ClinVar RCV000990776
- Benign
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0782
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Benign (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Most common in the HGDP:DRUZE population (allele frequency 0.017)
- Structural context available
- Cited in: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)