K13E (p.Lys13Glu) variant of RPE65 (Retinoid isomerohydrolase)
K13E (p.Lys13Glu) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs758419556
- ClinGen CA902633
- ClinVar RCV003117086
- ExAC rs758419556
- Uncertain significance
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.45
- MetaLR 0.58
- MetaSVM -0.04
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)