I25V (p.Ile25Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
I25V (p.Ile25Val) 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 not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- rs63749838
- ClinGen CA16617881
- ClinVar RCV000481596
- ClinVar RCV001026386
- Uncertain significance
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 28.00
- PolyPhen-2 0.91
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Hereditary nonpolyposis colorectal neoplasms; Here)
- EBI: Likely pathogenic (in LYNCH2)
- UniProt: Likely pathogenic (in LYNCH2)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- 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)