A25del (p.Ala25del) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A25del (p.Ala25del) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A25del (p.Ala25del) variant details
- rs1354375594
- gnomAD 11-6390668-ACCG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available