V4L (p.Val4Leu) variant of CDC73 (Parafibromin)
V4L (p.Val4Leu) in CDC73 (Parafibromin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Parathyroid carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- rs1675463101
- ClinGen CA343972743
- ClinVar RCV001063458
- Ensembl rs1675463101
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Parathyroid carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.52
- MetaLR 0.41
- MetaSVM -0.11
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.23
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Parathyroid carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)