T72N (p.Thr72Asn) variant of SOST (Sclerostin)
T72N (p.Thr72Asn) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T72N (p.Thr72Asn) variant details
- p.Thr72Asn
- rs2508693141
- ClinGen CA399702767
- ClinVar RCV002754636
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)