V132I (p.Val132Ile) variant of RPGR (Q92834)
V132I (p.Val132Ile) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V132I (p.Val132Ile) variant details
- p.Val132Ile
- rs768274240
- ClinGen CA10385666
- ClinVar RCV001509982
- ClinVar RCV003931039
- Benign
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 0.58
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Benign (RPGR-related retinopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.00028)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)