R9H (p.Arg9His) variant of MLH1 (DNA mismatch repair protein Mlh1)
R9H (p.Arg9His) 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 Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs2125693660
- ClinGen CA2573136313
- ClinVar RCV001912306
- Ensembl rs2125693660
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- ESM-1b 0.00
- AlphaMissense 0.17
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available