A25T (p.Ala25Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A25T (p.Ala25Thr) 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.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- ExAC rs758894722
- Missense
- Variant Prioritization Score for Impact Estimate 0.0577
- REVEL 0.02
- CADD 6.47
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available