A38T (p.Ala38Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A38T (p.Ala38Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- gnomAD rs1847863697
- Missense
- Variant Prioritization Score for Impact Estimate 0.0609
- REVEL 0.01
- CADD 6.61
- Most common in the African/African-American population (allele frequency 9.4e-05)
- Structural context available