F19L (p.Phe19Leu) variant of MSH2 (DNA mismatch repair protein Msh2)
F19L (p.Phe19Leu) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Lynch syndrome 1. 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.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- rs141711342
- ClinGen CA021396
- ClinVar RCV000160635
- ClinVar RCV000409531
- Benign
- Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.72
- CADD 32.00
- ClinVar: Benign (Lynch syndrome 1)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 1)
- 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: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)