L46L (p.Leu46Leu) variant of H6PD (O95479)
L46L (p.Leu46Leu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L46L (p.Leu46Leu) variant details
- p.Leu46Leu
- rs1641123215
- gnomAD 1-9245072-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0989
- CADD 2.58
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available