D22D (p.Asp22Asp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D22D (p.Asp22Asp) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D22D (p.Asp22Asp) variant details
- p.Asp22Asp
- rs886048444
- gnomAD 11-6390664-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 8.42
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available