V90I (p.Val90Ile) variant of RPE65 (Retinoid isomerohydrolase)
V90I (p.Val90Ile) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V90I (p.Val90Ile) variant details
- p.Val90Ile
- rs370076628
- ClinGen CA902553
- ClinVar RCV001041393
- ClinVar RCV001275288
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- MetaLR 0.70
- MetaSVM 0.27
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20; not provi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)