A27T (p.Ala27Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27T (p.Ala27Thr) 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, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD 11-6390677-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0609
- REVEL 0.01
- CADD 9.69
- PolyPhen-2 0.01
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available