I25M (p.Ile25Met) variant of MLH1 (DNA mismatch repair protein Mlh1)
I25M (p.Ile25Met) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in LYNCH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
I25M (p.Ile25Met) variant details
- p.Ile25Met
- ExAC rs753317868
- gnomAD rs753317868
- Likely benign
- in LYNCH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- ESM-1b 1.00
- AlphaMissense 0.91
- EBI: Likely benign (in LYNCH2)
- UniProt: Likely benign (in LYNCH2)
- Structural context available