I2M (p.Ile2Met) variant of MLH3 (DNA mismatch repair protein Mlh3)
I2M (p.Ile2Met) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I2M (p.Ile2Met) variant details
- p.Ile2Met
- rs776416749
- ClinGen CA7276102
- ClinVar RCV001058280
- ClinVar RCV003321792
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.86
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)