L30R (p.Leu30Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L30R (p.Leu30Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- Ensembl rs1590735050
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.03
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available