V16G (p.Val16Gly) variant of MLH1 (DNA mismatch repair protein Mlh1)
V16G (p.Val16Gly) 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 Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V16G (p.Val16Gly) variant details
- p.Val16Gly
- rs1553637237
- ClinGen CA352060695
- ClinVar RCV000522288
- ClinVar RCV000546291
- Uncertain significance
- Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Lynch syndrome; Hereditary nonpolyposis colorectal neoplasms; 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)