P2L (p.Pro2Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P2L (p.Pro2Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- ExAC rs769252257
- TOPMed rs769252257
- gnomAD rs769252257
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available