Y4C (p.Tyr4Cys) variant of CRX (Cone-rod homeobox protein)
Y4C (p.Tyr4Cys) 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; Leber congenital amaurosis 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y4C (p.Tyr4Cys) variant details
- p.Tyr4Cys
- rs1211313175
- ClinGen CA406628612
- ClinVar RCV001323352
- ClinVar RCV004692502
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.81
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.0133
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)