S6R (p.Ser6Arg) variant of CDC73 (Parafibromin)
S6R (p.Ser6Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- rs564726032
- ClinGen CA343972758
- ClinVar RCV003607812
- 1000Genomes rs564726032
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.14
- PolyPhen-2 0.85
- SIFT 0.00
- EVE 0.52
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)