R20L (p.Arg20Leu) variant of PMS2 (P54278)
R20L (p.Arg20Leu) 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.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- 1000Genomes rs10254120
- ESP rs10254120
- ExAC rs10254120
- TOPMed rs10254120
- Benign
- in LYNCH4
- Missense
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Structural context available