P1375H (p.Pro1375His) variant of DCC (Netrin receptor DCC)
P1375H (p.Pro1375His) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carcinoma of colon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
P1375H (p.Pro1375His) variant details
- p.Pro1375His
- rs387906555
- ClinGen CA250661
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10147
- Pathogenic
- Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.20
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.17
- SIFT 0.72
- MutPred 0.56
- ClinVar: Pathogenic (Carcinoma of colon)
- EBI: Pathogenic (in a colorectal carcinoma)
- UniProt: Pathogenic (in a colorectal carcinoma)
- Structural context available
- Cited in: The DCC gene: structural analysis and mutations in colorectal carcinomas. (PMID 8188295)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)