P28P (p.Pro28Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P28P (p.Pro28Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs577769499
- gnomAD 11-6390682-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 9.17
- Population evidence available
- Structural context available
- Literature evidence available