R9H (p.Arg9His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R9H (p.Arg9His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- ESP rs373013062
- ExAC rs373013062
- TOPMed rs373013062
- gnomAD rs373013062
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.01
- CADD 22.40
- PolyPhen-2 0.50
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available