L42L (p.Leu42Leu) variant of HMBS (Porphobilinogen deaminase)
L42L (p.Leu42Leu) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs373652991
- gnomAD 11-119088671-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 10.30
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available