P44S (p.Pro44Ser) variant of DICER1 (Endoribonuclease Dicer)
P44S (p.Pro44Ser) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; Her. The record also includes structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs2140295270
- ClinGen CA390890385
- ClinVar RCV003466178
- Ensembl rs2140295270
- Uncertain significance
- Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome; Her
- Missense
- ClinVar: Uncertain significance (Global developmental delay - lung cysts - overgrowth - Wilms tum)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available