L32V (p.Leu32Val) variant of TP53 (Cellular tumor antigen p53)
L32V (p.Leu32Val) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing 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.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- rs1555526920
- ClinGen CA397848277
- ClinVar RCV002374122
- Ensembl rs1555526920
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.97
- MetaSVM 1.04
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- p53 variant effect measured by cell growth: score 0.233
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)