R9L (p.Arg9Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R9L (p.Arg9Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- rs373013062
- ClinGen CA5852455
- ClinVar RCV001279278
- ClinVar RCV006372416
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.01
- CADD 14.80
- PolyPhen-2 0.04
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)