C12F (p.Cys12Phe) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C12F (p.Cys12Phe) 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.
C12F (p.Cys12Phe) variant details
- p.Cys12Phe
- gnomAD 11-6390633-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0526
- REVEL 0.01
- CADD 6.26
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available