L595P (p.Leu595Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
L595P (p.Leu595Pro) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
L595P (p.Leu595Pro) variant details
- p.Leu595Pro
- rs786201590
- ClinGen CA346728298
- ClinVar RCV001052629
- Ensembl rs786201590
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available