N131H (p.Asn131His) variant of TP53 (Cellular tumor antigen p53)
N131H (p.Asn131His) in TP53 (Cellular tumor antigen p53) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes experimental measurements and structural context.
N131H (p.Asn131His) variant details
- p.Asn131His
- cosmic curated COSV53325
- UniProt VAR 044736
- Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- ESM-1b 1.00
- AlphaMissense 0.17
- ClinVar: Likely pathogenic (Breast-ovarian cancer, familial, susceptibility to, 1)
- EBI: Variant of uncertain significance (in sporadic cancers)
- UniProt: Uncertain significance (in sporadic cancers)
- Structural context available
- p53 variant effect measured by cell growth: score 0.655