L30L (p.Leu30Leu) variant of H6PD (O95479)
L30L (p.Leu30Leu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs911676820
- gnomAD 1-9245024-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 6.96
- Population evidence available
- Structural context available
- Literature evidence available