L549R (p.Leu549Arg) variant of MLH1 (DNA mismatch repair protein Mlh1)
L549R (p.Leu549Arg) 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 colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
L549R (p.Leu549Arg) variant details
- p.Leu549Arg
- rs63750289
- ClinGen CA352060565
- ClinVar RCV001295450
- ClinVar RCV003478762
- Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- ESM-1b 1.00
- AlphaMissense 0.93
- MutPred 0.96
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Structural context available