L43P (p.Leu43Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L43P (p.Leu43Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD rs1255290838
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available