P18L (p.Pro18Leu) variant of MSH3 (DNA mismatch repair protein Msh3)
P18L (p.Pro18Leu) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs1749189883
- ClinGen CA360265142
- ClinVar RCV003461916
- Uncertain significance
- Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.11
- MetaLR 0.44
- MetaSVM -0.57
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.28
- ClinVar: Uncertain significance (Endometrial carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)