P2R (p.Pro2Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P2R (p.Pro2Arg) 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.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- ExAC rs769252257
- TOPMed rs769252257
- gnomAD rs769252257
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available