I22K (p.Ile22Lys) variant of CRB1 (Protein crumbs homolog 1)
I22K (p.Ile22Lys) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Leber congenital amaurosis 8; Retinitis pigmentosa 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I22K (p.Ile22Lys) variant details
- p.Ile22Lys
- rs762741389
- ClinGen CA1311555
- ClinVar RCV001915622
- ClinVar RCV005809681
- Uncertain significance
- Inborn genetic diseases; Leber congenital amaurosis 8; Retinitis pigmentosa 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.23
- MetaLR 0.44
- MetaSVM -0.50
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; Leber congenital amaurosis 8; Retinitis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)