P28S (p.Pro28Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
P28S (p.Pro28Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs1559500757
- ClinGen CA352060951
- ClinVar RCV000771489
- ClinVar RCV005092223
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)