T14I (p.Thr14Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
T14I (p.Thr14Ile) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T14I (p.Thr14Ile) variant details
- p.Thr14Ile
- rs774363593
- ClinGen CA035624
- ClinVar RCV000456258
- ClinVar RCV000478685
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.55
- ESM-1b 0.23
- AlphaMissense 0.23
- CADD 24.40
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; He)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)