P51S (p.Pro51Ser) variant of CDC73 (Parafibromin)
P51S (p.Pro51Ser) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- rs540541696
- ClinGen CA1303278
- cosmic curated COSV66465
- ClinVar RCV002016147
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.36
- MetaLR 0.53
- MetaSVM -0.17
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.27
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)