N45T (p.Asn45Thr) variant of PMS2 (P54278)
N45T (p.Asn45Thr) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
N45T (p.Asn45Thr) variant details
- p.Asn45Thr
- rs1554306353
- ClinGen CA366744999
- ClinVar RCV000502451
- Ensembl rs1554306353
- Likely pathogenic
- Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Endometrial carcinoma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)