D12E (p.Asp12Glu) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12E (p.Asp12Glu) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- rs587782181
- ClinGen CA009931
- ClinVar RCV000130802
- ClinVar RCV000804813
- Uncertain significance
- Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.60
- ESM-1b 0.06
- AlphaMissense 0.18
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)