L31L (p.Leu31Leu) variant of H6PD (O95479)
L31L (p.Leu31Leu) in H6PD (O95479) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- rs944435283
- gnomAD 1-9245025-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 9.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available