I75V (p.Ile75Val) variant of RPGR (Q92834)
I75V (p.Ile75Val) 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.
I75V (p.Ile75Val) variant details
- p.Ile75Val
- rs111631988
- ClinGen CA202241
- ClinVar RCV000086937
- ClinVar RCV000177042
- Benign
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0784
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (RPGR-related retinopathy)
- EBI: Benign (in RP3)
- UniProt: Benign (in RP3)
- Most common in the HGDP:BIAKA population (allele frequency 0.23)
- Structural context available
- Cited in: Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. (PMID 9399904)
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)