A27S (p.Ala27Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27S (p.Ala27Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- gnomAD 11-6390677-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0542
- REVEL 0.01
- CADD 7.61
- PolyPhen-2 0.02
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available