L49L (p.Leu49Leu) variant of H6PD (O95479)
L49L (p.Leu49Leu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs1357825813
- gnomAD 1-9245081-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.87
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available