A5P (p.Ala5Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
A5P (p.Ala5Pro) 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 cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- rs1389945622
- ClinGen CA352060369
- ClinVar RCV000565132
- ClinVar RCV003593994
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- 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)