L33P (p.Leu33Pro) variant of PMS2 (P54278)
L33P (p.Leu33Pro) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L33P (p.Leu33Pro) variant details
- p.Leu33Pro
- cosmic curated COSV56150
- Ensembl rs1554306467
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available