H308P (p.His308Pro) variant of MLH1 (DNA mismatch repair protein Mlh1)
H308P (p.His308Pro) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
H308P (p.His308Pro) variant details
- p.His308Pro
- rs1559543768
- ClinGen CA352048631
- ClinVar RCV000680200
- ClinVar RCV001861879
- Likely pathogenic
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.74
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Lynch syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)