P28H (p.Pro28His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P28H (p.Pro28His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P28H (p.Pro28His) variant details
- p.Pro28His
- gnomAD 11-6390681-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.04
- CADD 20.80
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available