L33Q (p.Leu33Gln) variant of PMS2 (P54278)
L33Q (p.Leu33Gln) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L33Q (p.Leu33Gln) variant details
- p.Leu33Gln
- Ensembl rs1554306467
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available