A27P (p.Ala27Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27P (p.Ala27Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A27P (p.Ala27Pro) variant details
- p.Ala27Pro
- gnomAD 11-6390677-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.11
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available