N306I (p.Asn306Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
N306I (p.Asn306Ile) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
N306I (p.Asn306Ile) variant details
- p.Asn306Ile
- rs755553895
- ClinGen CA10578233
- ClinVar RCV000223630
- ClinVar RCV000485727
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.10
- CADD 28.40
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)