C27F (p.Cys27Phe) variant of PMS2 (P54278)
C27F (p.Cys27Phe) 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 0.83 / 1. The record also includes structural context.
C27F (p.Cys27Phe) variant details
- p.Cys27Phe
- rs2128845886
- ClinGen CA366745096
- ClinVar RCV001995725
- Ensembl rs2128845886
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.95
- MetaLR 0.81
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.91
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available