D12G (p.Asp12Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12G (p.Asp12Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- rs1553637200
- ClinGen CA352060557
- ClinVar RCV000630230
- Ensembl rs1553637200
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- ESM-1b 1.00
- AlphaMissense 0.35
- MutPred 0.56
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available