M1L (p.Met1Leu) variant of PMS2 (P54278)
M1L (p.Met1Leu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary nonpolyposis colon canc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs587779333
- ClinGen CA010652
- ClinVar RCV000132181
- ClinVar RCV000218553
- Benign
- Hereditary nonpolyposis colorectal neoplasms; Hereditary nonpolyposis colon canc
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- MetaLR 0.47
- MetaSVM -0.58
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.99
- ClinVar: Benign (Lynch syndrome 4)
- EBI: Pathogenic
- UniProt: 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)