E20K (p.Glu20Lys) variant of RPE65 (Retinoid isomerohydrolase)
E20K (p.Glu20Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs755545288
- ClinGen CA902631
- ClinVar RCV001346164
- ClinVar RCV001825925
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- MetaLR 0.67
- MetaSVM 0.15
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.05
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)