A2S (p.Ala2Ser) variant of CDC73 (Parafibromin)
A2S (p.Ala2Ser) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- UniProt VAR 064927
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism… (PMID 17639062)