I18L (p.Ile18Leu) variant of PMS2 (P54278)
I18L (p.Ile18Leu) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in LYNCH4. The record also includes structural context.
I18L (p.Ile18Leu) variant details
- p.Ile18Leu
- 1000Genomes rs63750123
- ESP rs63750123
- ExAC rs63750123
- TOPMed rs63750123
- Benign
- in LYNCH4
- Missense
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Structural context available