R40P (p.Arg40Pro) variant of CRX (Cone-rod homeobox protein)
R40P (p.Arg40Pro) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- rs771450991
- ClinGen CA406629427
- ClinVar RCV002885697
- Uncertain significance
- Leber congenital amaurosis 7; Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- 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 -0.277
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)