A5V (p.Ala5Val) variant of MLH1 (DNA mismatch repair protein Mlh1)
A5V (p.Ala5Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs878853779
- ClinGen CA10582151
- ClinVar RCV000225822
- ClinVar RCV001836759
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 23.50
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)