V10D (p.Val10Asp) variant of TP53 (Cellular tumor antigen p53)
V10D (p.Val10Asp) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Li-Fraumeni syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes experimental measurements, published literature, and structural context.
V10D (p.Val10Asp) variant details
- p.Val10Asp
- rs1418778734
- ClinGen CA397849192
- ClinVar RCV003622623
- gnomAD rs1418778734
- Uncertain significance
- Li-Fraumeni syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 0.88
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Li-Fraumeni syndrome)
- EBI: Variant of uncertain significance (in a sporadic cancer)
- UniProt: Uncertain significance (in a sporadic cancer)
- Structural context available
- p53 variant effect measured by cell growth: score 0.618
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)
- Cited in: Li-Fraumeni Syndrome. (PMID 20301488)