K88R (p.Lys88Arg) variant of CRX (Cone-rod homeobox protein)
K88R (p.Lys88Arg) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinitis pigmentosa; Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K88R (p.Lys88Arg) variant details
- p.Lys88Arg
- rs1001151383
- ClinGen CA309212205
- ClinVar RCV001320521
- ClinVar RCV001532383
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.53
- PolyPhen-2 0.57
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa; Cone-rod dystrophy 2)
- EBI: Pathogenic (in LCA7)
- UniProt: Pathogenic (in LCA7)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)