L49L (p.Leu49Leu) variant of HMBS (Porphobilinogen deaminase)
L49L (p.Leu49Leu) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs752790540
- gnomAD 11-119088692-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available