P2P (p.Pro2Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P2P (p.Pro2Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P2P (p.Pro2Pro) variant details
- p.Pro2Pro
- gnomAD 11-6390604-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 9.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available