Q24L (p.Gln24Leu) variant of SOST (Sclerostin)
Q24L (p.Gln24Leu) in SOST (Sclerostin) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q24L (p.Gln24Leu) variant details
- p.Gln24Leu
- rs146848252
- ClinGen CA8592891
- ClinVar RCV002651941
- 1000Genomes rs146848252
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- 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)