L37P (p.Leu37Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L37P (p.Leu37Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- Ensembl rs1847863252
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.21
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 7.6e-05)
- Structural context available