I19S (p.Ile19Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
I19S (p.Ile19Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LYNCH2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
I19S (p.Ile19Ser) variant details
- p.Ile19Ser
- Ensembl rs2125694114
- Uncertain significance
- in LYNCH2
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.68
- SIFT 0.00
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- Structural context available