F30L (p.Phe30Leu) variant of CDC73 (Parafibromin)
F30L (p.Phe30Leu) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- Ensembl rs1675465724
- Likely benign
- Missense
- MetaLR 0.55
- MetaSVM -0.10
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available