P36H (p.Pro36His) variant of CRX (Cone-rod homeobox protein)
P36H (p.Pro36His) 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 Prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements, published literature, and structural context.
P36H (p.Pro36His) variant details
- p.Pro36His
- rs193920917
- ClinGen CA174095
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99704
- Uncertain significance
- Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.31
- MetaLR 0.89
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.36
- ClinVar: Uncertain significance (Prostate cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.293
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)