D12N (p.Asp12Asn) variant of MLH1 (DNA mismatch repair protein Mlh1)
D12N (p.Asp12Asn) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- rs749548566
- ClinGen CA034988
- ClinVar RCV000214109
- ExAC rs749548566
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 32.00
- PolyPhen-2 0.75
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)