V24I (p.Val24Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
V24I (p.Val24Ile) 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; Colorectal cancer, hereditary nonp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes published literature and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- rs1348994712
- ClinGen CA352060879
- ClinVar RCV001292948
- ClinVar RCV001863175
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonp
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- ESM-1b 0.00
- AlphaMissense 0.12
- MutPred 0.85
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)