C12Y (p.Cys12Tyr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C12Y (p.Cys12Tyr) 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.
C12Y (p.Cys12Tyr) variant details
- p.Cys12Tyr
- gnomAD 11-6390633-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0452
- REVEL 0.00
- CADD 4.30
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available