Q2* (p.Gln2Ter) variant of SOST (Sclerostin)
Q2* (p.Gln2Ter) in SOST (Sclerostin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- ExAC rs769839504
- gnomAD rs769839504
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 37.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available