D281V (p.Asp281Val) variant of TP53 (Cellular tumor antigen p53)
D281V (p.Asp281Val) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma suscepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D281V (p.Asp281Val) variant details
- p.Asp281Val
- rs587781525
- ClinGen CA000452
- NCI-TCGA Cosmic COSV5269
- NCI-TCGA Cosmic COSV5272
- Pathogenic/Likely pathogenic
- Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma suscepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Adrenocortical carcinoma, hereditary; Familial cancer of breast;)
- EBI: Pathogenic (in a familial cancer not matching LFS)
- UniProt: Pathogenic (in a familial cancer not matching LFS)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)