P17L (p.Pro17Leu) variant of PMS2 (P54278)
P17L (p.Pro17Leu) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- Ensembl rs1554306578
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available