E5K (p.Glu5Lys) variant of PMS2 (P54278)
E5K (p.Glu5Lys) 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 0.52 / 1. The record also includes structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- rs372539944
- ClinGen CA366745237
- NCI-TCGA Cosmic COSV5614
- cosmic curated COSV56149
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 0.17
- MetaLR 0.60
- MetaSVM -0.45
- PolyPhen-2 0.68
- SIFT 0.07
- MutPred 0.27
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available