L310H (p.Leu310His) variant of MSH2 (DNA mismatch repair protein Msh2)
L310H (p.Leu310His) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L310H (p.Leu310His) variant details
- p.Leu310His
- Ensembl rs63750640
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- CADD 27.20
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available