R337H (p.Arg337His) variant of TP53 (Cellular tumor antigen p53)
R337H (p.Arg337His) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic/pathogenic, low pen in the context of Colorectal cancer; Carcinoma of pancreas; Choroid plexus papilloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R337H (p.Arg337His) variant details
- p.Arg337His
- rs121912664
- ClinGen CA000013
- NCI-TCGA Cosmic COSV5266
- NCI-TCGA Cosmic COSV5269
- Pathogenic/Likely pathogenic/Pathogenic, low pen
- Colorectal cancer; Carcinoma of pancreas; Choroid plexus papilloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 21.80
- PolyPhen-2 0.72
- SIFT 0.09
- ClinVar: Pathogenic/Likely pathogenic/Pathogenic, low pen (Colorectal cancer; Carcinoma of pancreas; Choroid plexus papillo)
- EBI: Pathogenic (in LFS)
- UniProt: Pathogenic (in LFS)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. (PMID 11481490)
- Cited in: An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children… (PMID 11600572)