V99I (p.Val99Ile) variant of RPE65 (Retinoid isomerohydrolase)
V99I (p.Val99Ile) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V99I (p.Val99Ile) variant details
- p.Val99Ile
- rs143056561
- ClinGen CA902549
- ClinVar RCV000972144
- ClinVar RCV001097119
- Likely benign
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.52
- MetaLR 0.73
- MetaSVM 0.37
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Likely benign (RPE65-related recessive retinopathy)
- EBI: Benign (in LCA2)
- UniProt: Benign (in LCA2)
- Most common in the 1KG:KHV population (allele frequency 0.015)
- Structural context available
- Cited in: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (PMID 21602930)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)