D74D (p.Asp74Asp) variant of SOST (Sclerostin)
D74D (p.Asp74Asp) in SOST (Sclerostin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D74D (p.Asp74Asp) variant details
- p.Asp74Asp
- rs1375600998
- gnomAD 17-43755762-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 9.88
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available