P48Q (p.Pro48Gln) variant of SOST (Sclerostin)
P48Q (p.Pro48Gln) in SOST (Sclerostin) 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 0.17 / 1. The record also includes population frequency data and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- ExAC rs779039644
- TOPMed rs779039644
- gnomAD rs779039644
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.09
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available