P28L (p.Pro28Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
P28L (p.Pro28Leu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lynch syndrome. 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.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs63750792
- ClinGen CA012549
- ClinVar RCV000075881
- ClinVar RCV000160552
- Pathogenic
- Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Lynch syndrome)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis… (PMID 10323887)
- Cited in: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. (PMID 12362047)