M35K (p.Met35Lys) variant of MLH1 (DNA mismatch repair protein Mlh1)
M35K (p.Met35Lys) 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 Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colorectal neoplas. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
M35K (p.Met35Lys) variant details
- p.Met35Lys
- rs63749906
- ClinGen CA352061126
- ClinVar RCV001879818
- ClinVar RCV005236736
- Likely pathogenic
- Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colorectal neoplas
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis co)
- EBI: Pathogenic (in LYNCH2)
- UniProt: Pathogenic (in LYNCH2)
- Structural context available
- Cited in: Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). (PMID 16451135)
- Cited in: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)