S193P (p.Ser193Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
S193P (p.Ser193Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
S193P (p.Ser193Pro) variant details
- p.Ser193Pro
- rs63751021
- ClinGen CA011053
- ClinVar RCV003450502
- ClinVar RCV005675201
- Likely pathogenic
- Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Likely pathogenic (Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary c)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds. Mutations in brief no. 182. Online. (PMID 10660333)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)