I26L (p.Ile26Leu) variant of PMS2 (P54278)
I26L (p.Ile26Leu) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
I26L (p.Ile26Leu) variant details
- p.Ile26Leu
- rs1412094620
- ClinGen CA366745108
- ClinVar RCV001038065
- TOPMed rs1412094620
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- AlphaMissense 0.69
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.47
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available