L5L (p.Leu5Leu) variant of CDC73 (Parafibromin)
L5L (p.Leu5Leu) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- rs2103111572
- gnomAD 1-193122215-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 14.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available