Q10R (p.Gln10Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q10R (p.Gln10Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- gnomAD 11-6390627-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0901
- REVEL 0.02
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available