T8P (p.Thr8Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
T8P (p.Thr8Pro) 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 cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- TOPMed rs876660332
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- ESM-1b 1.00
- AlphaMissense 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign (in dbSNP:rs17217716)
- UniProt: Likely benign (in dbSNP:rs17217716)
- Structural context available