L30L (p.Leu30Leu) variant of HFE (Q30201)
L30L (p.Leu30Leu) in HFE (Q30201) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs760685317
- gnomAD 6-26090852-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 11.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available