G44V (p.Gly44Val) variant of CDC73 (Parafibromin)
G44V (p.Gly44Val) 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 0.72 / 1. The record also includes published literature and structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- rs2103111787
- ClinGen CA343973014
- ClinVar RCV002865993
- Uncertain significance
- Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.53
- PolyPhen-2 0.76
- SIFT 0.00
- MutPred 0.75
- ClinVar: Uncertain significance (Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)