I25T (p.Ile25Thr) variant of MLH1 (DNA mismatch repair protein Mlh1)
I25T (p.Ile25Thr) 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 MLH1-related disorder; Hereditary nonpolyposis colorectal neoplasms; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I25T (p.Ile25Thr) variant details
- p.Ile25Thr
- rs63750514
- ClinGen CA011945
- ClinVar RCV001961868
- ClinVar RCV003299072
- Uncertain significance
- MLH1-related disorder; Hereditary nonpolyposis colorectal neoplasms; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (MLH1-related disorder; Hereditary nonpolyposis colorectal neopla)
- EBI: Variant of uncertain significance (in LYNCH2)
- UniProt: Uncertain significance (in LYNCH2)
- 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)