P36S (p.Pro36Ser) variant of CRX (Cone-rod homeobox protein)
P36S (p.Pro36Ser) 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 Leber congenital amaurosis 7; Cone-rod dystrophy 2. The record also includes experimental measurements, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs2514252109
- ClinGen CA406629378
- ClinVar RCV002305159
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- ClinVar: Uncertain significance (Leber congenital amaurosis 7; Cone-rod dystrophy 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.293
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)