L30L (p.Leu30Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L30L (p.Leu30Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs748793138
- gnomAD 11-6390688-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 6.12
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available