T47P (p.Thr47Pro) variant of CRX (Cone-rod homeobox protein)
T47P (p.Thr47Pro) 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 Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
T47P (p.Thr47Pro) variant details
- p.Thr47Pro
- rs1939392843
- ClinGen CA406629492
- ClinVar RCV001198956
- TOPMed rs1939392843
- Uncertain significance
- Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- AlphaMissense 0.66
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.42
- ClinVar: Uncertain significance (Retinitis pigmentosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.611
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)