I18F (p.Ile18Phe) variant of PMS2 (P54278)
I18F (p.Ile18Phe) 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 0.69 / 1. The record also includes structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- rs63750123
- ClinGen CA366745150
- ClinVar RCV001896168
- 1000Genomes rs63750123
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- AlphaMissense 0.29
- MetaLR 0.77
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Structural context available