Y55C (p.Tyr55Cys) variant of CDC73 (Parafibromin)
Y55C (p.Tyr55Cys) 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 0.89 / 1. The record also includes published literature and structural context.
Y55C (p.Tyr55Cys) variant details
- p.Tyr55Cys
- rs2103113933
- ClinGen CA343973100
- ClinVar RCV002029854
- Ensembl rs2103113933
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)