L8L (p.Leu8Leu) variant of CDC73 (Parafibromin)
L8L (p.Leu8Leu) in CDC73 (Parafibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- rs1366872937
- gnomAD 1-193122222-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 14.60
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available