R18S (p.Arg18Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
R18S (p.Arg18Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- ESP rs367654552
- ExAC rs367654552
- gnomAD rs367654552
- Uncertain significance
- Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorect)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- Structural context available