M26I (p.Met26Ile) variant of CRX (Cone-rod homeobox protein)
M26I (p.Met26Ile) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 2; Inborn genetic diseases; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M26I (p.Met26Ile) variant details
- p.Met26Ile
- rs886054544
- ClinGen CA10652151
- ClinVar RCV000298080
- ClinVar RCV000341362
- Uncertain significance
- Cone-rod dystrophy 2; Inborn genetic diseases; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Inborn genetic diseases; Leber congenital)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.244
- 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)